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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TAF1

Variant:p.D1345N

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TAF1

NM_138923.4:p.D1345N

hg38:chrX:71406735 G>A

Associated Papers

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Cheng H et al.

Human Mutation, 2019

31646703 (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."