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Exome sequence analysis in consanguineous Pakistani familie..:
Muhammad Muzammal
;
Muhammad Zubair
;
Sophie Bierbaumer
...
https://doi.org/10.1002/mgg3.834. , 2019
Link:
https://doi.org/10.1002/mgg3.834
RT Journal T1
Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:c14d0cf50a7647c09a201c5632d1b792&Exemplar=1&LAN=DE A1 Muhammad Muzammal A1 Muhammad Zubair A1 Sophie Bierbaumer A1 Jasmin Blatterer A1 Ricarda Graf A1 Aisha Gul A1 Safdar Abbas A1 Muhammad Badar A1 Ansar Ahmad Abbasi A1 Muzammil Ahmad Khan A1 Christian Windpassinger PB Wiley YR 2019 K1 BBS9 K1 exome sequencing K1 founder effect K1 frameshift mutation K1 Pakistani family K1 Genetics K1 QH426-470 JF https://doi.org/10.1002/mgg3.834 LK http://dx.doi.org/https://doi.org/10.1002/mgg3.834 DO https://doi.org/10.1002/mgg3.834 SF ELIB - SuUB Bremen
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