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Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing
Imani, Saber, Cheng, Jingliang, Fu, Jiewen, Mobasher-Jannat, Abdolkarim, Wei, Chunli, Mohazzab-Torabi, Saman, Jadidi, Khosrow, Khosravi, Mohammad Hossein, Shasaltaneh, Marzieh Dehghan, Yang, Lisha, KhLanguage:
english
Journal:
Bioscience Reports
DOI:
10.1042/BSR20181544
Date:
March, 2019
File:
PDF, 4.89 MB
english, 2019