Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.M349T
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MYH7

NM_000257.4:p.M349T

Associated Papers

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

Kim OH et al.

Bmc Medical Genomics, 2024

39237976 (PubMed )
Supplement: 12920_2024_2000_MOESM1_ESM.docx

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

Lipov A et al.

Nature Cardiovascular Research, 2023

38666070 (PubMed )
Supplement: 44161_2023_346_MOESM3_ESM.xlsx › S5

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Ingles J et al.

Circulation. Genomic and Precision Medicine, 2019

30681346 (PubMed )
Supplement: hcg-12-e002460-s002.xlsx › Suppl_Table_8

Cardiomyopathy and Preeclampsia.

Gammill HS et al.

Circulation, 2018

30021846 (PubMed )
Supplement: circ_circulationaha-2017-031527_supp1.pdf

Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect.

Fourey D et al.

Circulation. Cardiovascular Genetics, 2017

A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.

Wang J et al.

Clinical Cardiology, 2009

Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.

Tsoutsman T et al.

Clinical and Experimental Pharmacology & Physiology, 2008

MYBPC3 polymorphism is a modifier for expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathy.

Wang P et al.

Biochemical and Biophysical Research Communications, 2005

Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland.

Jääskeläinen P et al.

Journal of Molecular Medicine (berlin, Germany), 2002

[Sarcomere gene mutations--a cause of hypertrophic cardiomyopathy].

Kuusisto J et al.

Duodecim; Laaketieteellinen Aikakauskirja, 1999

A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes.

Jeschke B et al.

Human Genetics, 1998

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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."