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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SH3TC2

Variant:p.L135R

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SH3TC2

NM_024577.4:p.L135R

hg38:chr5:149042819 A>C

Associated Papers

Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.

Bardhan M et al.

Neurogenetics, 2022

35416532 (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."