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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SELPLG

Variant:p.T265M

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SELPLG

NM_001206609.2:p.T265M

hg38:chr12:108623562 G>A

Associated Papers

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

Saitsu H et al.

Journal of Human Genetics, 2014

25102098 (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."