Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BBS10

Variant:p.T39_L46del8

Back to variants list

BBS10

NM_024685.4:p.T39_L46del8

hg38:chr12:76348220 GAAGCACCTCGCCAGTGGGCTTCGT>G

Associated Papers

A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome

Ladino LY et al.

Biomedica : Revista Del Instituto Nacional De Salud, 2018

30335236 (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."