present in Gene: BBS10
present in Chromosome: 12
Position on Chromosome: 76347219
Alleles of this Variant: G/A;C
rs1156913215 in
BBS10 gene and
Bardet-Biedl Syndrome
PMID 20472660 2010 Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
PMID 27486776 2016 Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
PMID 25982971 2015 Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
PMID 22773737 2012 Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.