Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.S57C
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SH2D1A

NM_002351.5:p.S57C

Associated Papers

Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.

Lu Q et al.

Annals of Translational Medicine, 2020

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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."