Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.R388H
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LMNA

NM_170707.4:p.R388H

Associated Papers

Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.

Dzhumaniiazova I et al.

Genes, 2025

41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1

The genomic and transcriptomic landscape of metastastic urothelial cancer.

Loriot Y et al.

Nature Communications, 2024

39366934 (PubMed )
Supplement: 41467_2024_52915_MOESM9_ESM.xlsx › SuppTable6_mMIBC-Somatic_alt

Untranslated regions (UTRs) are a potential novel source of neoantigens for personalised immunotherapy.

Sng CCT et al.

Frontiers in Immunology, 2024

38558815 (PubMed )
Supplement: Table_1.xlsx › S1_b

An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration.

Chang L et al.

Bmc Medical Genomics, 2023

37784143 (PubMed )
Supplement: 12920_2023_1661_MOESM1_ESM.docx

Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.

Storey EC et al.

Cells, 2022

36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › Lamins

Intermediate filaments in cardiomyopathy.

Tsikitis M et al.

Biophysical Reviews, 2018

Multigenic Disease and Bilineal Inheritance in Dilated Cardiomyopathy Is Illustrated in Nonsegregating LMNA Pedigrees.

Cowan JR et al.

Circulation. Genomic and Precision Medicine, 2018

LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.

Florwick A et al.

Frontiers in Genetics, 2017

Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.

Zhao Y et al.

Biomed Research International, 2015

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

Lamin A/C mutations in dilated cardiomyopathy.

Tesson F et al.

Cardiology Journal, 2014

Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy.

Stallmeyer B et al.

Genetic Testing and Molecular Biomarkers, 2012

The genetics of dilated cardiomyopathy.

Flack E et al.

Heart Rhythm, 2012

Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.

Li D et al.

Clinical and Translational Science, 2010

Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

Cowan J et al.

Circulation. Cardiovascular Genetics, 2010

Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

Parks SB et al.

American Heart Journal, 2008

Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.

Captur G et al.

Open Heart, 0

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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."