Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CT47B1

Variant:p.A246V

Back to variants list

CT47B1

NM_001145718.3:p.A246V

hg38:chrX:120874934 G>A

Associated Papers

Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.

Lim BC et al.

Gene, 2014

24914498 (PubMed )

Select a paper to view details

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."