Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.S573L
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LMNA

NM_170708.4:p.S573L

Associated Papers

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

A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features.

Saha B et al.

Molecular Syndromology, 2010

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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."