Publications:

Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.

Bmc Medical Genetics

Khan, Muzammil Ahmad MA; Mohan, Sumitra S; Zubair, Muhammad M; Windpassinger, Christian C

Publication Date: 2016-02-04

Variant appearance in text: rs56356943

PubMed Link: 26846096

Variant Present in the following documents:

• Main text
• 12881_2016_Article_271.pdf

View BVdb publication page