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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC35A1

Variant:p.V93_P94Fs

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SLC35A1

NM_006416.5:p.V93_P94Fs

hg38:chr6:87500590 GTGC>TG

Associated Papers

Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.

Ng BG et al.

American Journal of Medical Genetics. Part A, 2017

28856833 (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."