Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E385K
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LMNA

NM_170707.4:p.E385K

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

Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement.

Folker ES et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

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