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Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

Journal Article published 24 Jun 2014 in BMC Medical Genetics volume 15 issue 1

Authors: Jens Schuster, Tahir Naeem Khan, Muhammad Tariq, Pakeeza Arzoo Shaiq, Katrin Mäbert, Shahid Mahmood Baig, Joakim Klar