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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SGCA

Variant:p.Y78*

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SGCA

NM_000023.4:p.Y78*

hg38:chr17:50167658 C>A

Associated Papers

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

Xie Z et al.

Orphanet Journal of Rare Diseases, 2019

30764848 (PubMed )

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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."