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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TAF2

Variant:p.Y794N

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TAF2

NM_003184.4:p.Y794N

hg38:chr8:119762593 A>T

Associated Papers

Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature.

Lesieur-Sebellin M et al.

European Journal of Medical Genetics, 2021

34474177 (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."