Varaico: Literature-Extracted Genetic Variants

Gene:SGCA
Variant:p.L173P
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SGCA

NM_000023.4:p.L173P

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.

Bulakh M et al.

Gene, 2024

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

Sarcolemmal alpha and gamma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene.

Diniz G et al.

Pediatric Neurology, 2014

Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathophysiology.

Chen YW et al.

The Journal of Cell Biology, 2000

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

Carrié A et al.

Journal of Medical Genetics, 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."