Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene

by Muhammad Muzammal, Muhammad Zubair, Sophie Bierbaumer, Jasmin Blatterer, Ricarda Graf, Aisha Gul, Safdar Abbas, Muhammad Badar, Ansar Ahmad Abbasi, Muzammil Ahmad Khan, Christian Windpassinger
Published 2019-08-01