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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SH2B1

Variant:p.G59R

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SH2B1

NM_001387430.1:p.G59R

hg38:chr16:28866269 G>A

Associated Papers

Novel CLN3 mutation causing autophagic vacuolar myopathy.

Cortese A et al.

Neurology, 2014

24827497 (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."