Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.L152F
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LMNA

NM_170707.4:p.L152F

Associated Papers

Crystal structure of progeria mutant S143F lamin A/C reveals increased hydrophobicity driving nuclear deformation.

Ahn J et al.

Communications Biology, 2022

Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including 'Healthy Lipid' Emerin p.D149H in the ExAC Cohort.

Dharmaraj T et al.

Frontiers in Cell and Developmental Biology, 2019

31024910 (PubMed )
Supplement: Table_2.XLSX › EMD
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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."