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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TAF2

Variant:p.K156E

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TAF2

NM_003184.4:p.K156E

hg38:chr8:119803972 T>C

Associated Papers

A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders.

Shetty M et al.

Molecular Syndromology, 2017

29230161 (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."