Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.I201T
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MYH7

NM_000257.4:p.I201T

Associated Papers

Clinical usefulness of genetic diagnosis in early-onset cardiomyopathies.

Greco A et al.

Revista Espanola De Cardiologia (english Ed.), 2026

Danicamtiv, a Selective Agonist of Cardiac Myosin, for Dilated Cardiomyopathy: A Phase 2 Open-Label Trial.

Lakdawala NK et al.

Journal of the American College of Cardiology, 2025

Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.

Suzuki T et al.

Journal of the American Heart Association, 2025

40932142 (PubMed )
Supplement: JAH3-14-e041298-s001.zip › jah311383-sup-0001-TableS1.xlsx › Table_S1_CMP_variant_list

A Unique Case of a Child with Two Rare Hereditary Diseases: Familial Dilated Cardiomyopathy and Arterial Calcification.

Burykina Y et al.

International Journal of Molecular Sciences, 2025

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Exploration of calcium and amino acids for children with primary cardiomyopathies based on genetic characteristics.

Jiang S et al.

Frontiers in Pediatrics, 2025

41341110 (PubMed )
Supplement: Datasheet1.xlsx › Supplementary_Table_S1

Three Novel Pathogenic Variants in Unrelated Vietnamese Patients with Cardiomyopathy.

Tran DD et al.

Diagnostics (basel, Switzerland), 2024

Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.

Hirono K et al.

Journal of the American Heart Association, 2024

39494597 (PubMed )
Supplement: JAH3-13-e035614-s001.pdf

Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.

Kim OH et al.

Bmc Medical Genomics, 2024

Association Between Clonal Hematopoiesis and Left Ventricular Reverse Remodeling in Nonischemic Dilated Cardiomyopathy.

Inoue S et al.

Jacc. Basic to Translational Science, 2024

39297129 (PubMed )
Supplement: mmc1.pdf

Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy.

Pérez-Serra A et al.

International Journal of Molecular Sciences, 2024

A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.

Austin R et al.

Genetics in Medicine Open, 2024

39669597 (PubMed )
Supplement: mmc2.xlsx › Supp_tab_6

[Phenotype and genotype characteristics of children with cardiomyopathy associated with MYH7 gene mutation: a retrospective analysis].

Liu L et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2023

Genetic heterogeneity of cardiomyopathy and its correlation with patient care.

Kim MJ et al.

Bmc Medical Genomics, 2023

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S9

Comparison of Genetic Profiles of Neonates in Intensive Care Units Conceived With or Without Assisted Reproductive Technology.

Huang Z et al.

Jama Network Open, 2023

37014641 (PubMed )
Supplement: jamanetwopen-e236537-s001.pdf

Genetic landscape in Russian patients with familial left ventricular noncompaction.

Meshkov AN et al.

Frontiers in Cardiovascular Medicine, 2023

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table1.xlsx › Sheet1

Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Yang Q et al.

Journal of the American Heart Association, 2022

Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.

van der Meulen MH et al.

Circulation. Genomic and Precision Medicine, 2022

Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.

Kurzlechner LM et al.

Journal of Personalized Medicine, 2022

35629155 (PubMed )
Supplement: jpm-12-00733-s001.zip › HCM_ES_Variants_Manuscript__Supplemental_Table_S1.xlsx › MYH7

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S1

Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.

Ware SM et al.

Journal of the American Heart Association, 2021

33906374 (PubMed )
Supplement: JAH3-10-e017731-s001.xlsx › Supplemental_Table_S4a

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33500567 (PubMed )
Supplement: 41436_2020_1049_MOESM2_ESM.xlsx › Table_S2

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S6

Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes.

Franaszczyk M et al.

Journal of Clinical Medicine, 2020

Myosins and Disease.

Coluccio LM

Advances in Experimental Medicine and Biology, 2020

Dilated cardiomyopathy myosin mutants have reduced force-generating capacity.

Ujfalusi Z et al.

The Journal of Biological Chemistry, 2018

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Alamo L et al.

Elife, 2017

Genetic Variations Leading to Familial Dilated Cardiomyopathy.

Cho KW et al.

Molecules and Cells, 2016

Dilated cardiomyopathy: a disease of the myocardium.

Sanbe A

Biological & Pharmaceutical Bulletin, 2013

Sarcomeric protein mutations in dilated cardiomyopathy.

Chang AN et al.

Heart Failure Reviews, 2005

Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.

Villard E et al.

European Heart Journal, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."