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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSMD10

Variant:p.S49L

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PSMD10

NM_002814.4:p.S49L

hg38:chrX:108088819 G>A

Associated Papers

Phenotypic clustering in MPZ mutations.

Shy ME et al.

Brain : a Journal of Neurology, 2004

14711881 (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."