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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TAF5L

Variant:p.Y385C

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TAF5L

NM_014409.4:p.Y385C

hg38:chr1:229594913 T>C

Associated Papers

A human case of GIMAP6 deficiency: a novel primary immune deficiency.

Shadur B et al.

European Journal of Human Genetics : Ejhg, 2021

33328581 (PubMed )

Supplement: 41431_2020_773_MOESM1_ESM.docx

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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."