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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR51S1

Variant:p.P274L

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OR51S1

NM_001004758.1:p.P274L

hg38:chr11:4848388 G>A

Associated Papers

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

Harlalka GV et al.

Brain : a Journal of Neurology, 2013

24103911 (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."