Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.G382V
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LMNA

NM_170707.4:p.G382V

Associated Papers

Age and Sex Differences in the Genetics of Cardiomyopathy.

Akinrinade O et al.

Journal of Cardiovascular Translational Research, 2023

37477868 (PubMed )
Supplement: 12265_2023_10411_MOESM1_ESM.xlsx › Table_S2_All_variants

Epigenetics in LMNA-Related Cardiomyopathy.

Wang Y et al.

Cells, 2023

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

Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.

Anderson CL et al.

Npj Genomic Medicine, 2021

34862408 (PubMed )
Supplement: 41525_2021_265_MOESM1_ESM.pdf

State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy.

Patel V et al.

International Journal of Molecular Sciences, 2020

Arrhythmogenic Cardiomyopathy: Molecular Insights for Improved Therapeutic Design.

Stevens TL et al.

Journal of Cardiovascular Development and Disease, 2020

Ablation of SUN2-containing LINC complexes drives cardiac hypertrophy without interstitial fibrosis.

Stewart RM et al.

Molecular Biology of the Cell, 2019

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

28663758 (PubMed )
Supplement: Table_2.XLSX › Sheet1

Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy.

Quarta G et al.

European Heart Journal, 2012

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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."