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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ZNF253

Variant:p.I143delFs

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ZNF253

NM_021047.3:p.I143delFs

hg38:chr19:19891675 TA>T

Associated Papers

Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.

DeStefano GM et al.

Plos Genetics, 2014

24831815 (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."