Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A2
Variant:p.L143M
Back to variants list

SLC3A2

NM_001013251.3:p.L143M

Associated Papers

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Brockington M et al.

Human Molecular Genetics, 2001

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."