Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.R386W
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LMNA

NM_170707.4:p.R386W

Associated Papers

Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.

Bauer R et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40832409 (PubMed )
Supplement: media-1.xlsx › S4_-_Variants_Identified

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

Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance.

Choi SA et al.

Muscle & Nerve, 2019

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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."