A homozygous nonsense variant in IFT52...

Clinical Genetics 2016 / 02

A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy

Girisha, Katta Mohan, Shukla, Anju, Trujillano, Daniel, Bhavani, Gandham SriLakshmi, Hebbar, Malavika, Kadavigere, Rajagopal, Rolfs, Arndt
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Language:
english
Journal:
Clinical Genetics
DOI:
10.1111/cge.12762
Date:
February, 2016
File:
PDF, 448 KB
english, 2016
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