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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC35A2

Variant:p.V131del1

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SLC35A2

NM_005660.3:p.V131del1

hg38:chrX:48906423 GCAA>G

Associated Papers

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Ng BG et al.

Human Mutation, 2019

30817854 (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."