Varaico: Literature-Extracted Genetic Variants

Gene:SGCA
Variant:p.L287V
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SGCA

NM_000023.4:p.L287V

Associated Papers

Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).

Kondo-Iida E et al.

Human Molecular Genetics, 1999

[Molecular genetics and merosin abnormality in Fukuyama-type congenital muscular dystrophy (FCMD)].

Toda T et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1997

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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."