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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC7A2

Variant:p.V425M

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SLC7A2

NM_001370338.1:p.V425M

hg38:chr8:17558372 G>A

Associated Papers

Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.

Eade K et al.

Nature Metabolism, 2021

33758422 (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."