Varaico: Literature-Extracted Genetic Variants

Gene:SGCA
Variant:p.E104_V105Splc
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SGCA

NM_000023.4:p.E104_V105Splc

Associated Papers

Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.

Guo D et al.

Frontiers in Genetics, 2025

40421383 (PubMed )
Supplement: Table1.xlsx › Table_S3

Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.

Xie Z et al.

Orphanet Journal of Rare Diseases, 2019

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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."