Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.L541P
Back to variants list

BBS10

NM_024685.4:p.L541P

Associated Papers

Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies.

Kamenarova K et al.

Molecular Genetics & Genomic Medicine, 2022

35656873 (PubMed )
Supplement: MGG3-10-e1997-s001.docx
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."