Varaico: Literature-Extracted Genetic Variants

Gene:LEMD2
Variant:p.R503*
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LEMD2

NM_181336.4:p.R503*

Associated Papers

Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.

Boone PM et al.

Molecular Genetics & Genomic Medicine, 2016

26788539 (PubMed )
Supplement: MGG3-4-077-s001.pdf
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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."