Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs24) in BBS9 gene
Muzammal, Muhammad, Zubair, Muhammad, Bierbaumer, Sophie, Blatterer, Jasmin, Graf, Ricarda, Gul, Aisha, Abbas, Safdar, Badar, Muhammad, Abbasi, Ansar Ahmad, Khan, Muzammil Ahmad, Windpassinger, Christian
Published in Molecular genetics & genomic medicine (01.08.2019)
Published in Molecular genetics & genomic medicine (01.08.2019)
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