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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:M6PR

Variant:p.S115Splc

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M6PR

NM_002355.4:p.S115Splc

hg38:chr12:8945417 C>G

Associated Papers

New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene.

Oetting WS

Human Mutation, 2002

11793467 (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."