A homozygous nonsense variant inIFT52is associated with a human skeletal ciliopathy

Title
A homozygous nonsense variant inIFT52is associated with a human skeletal ciliopathy
Authors
Keywords
-
Journal
CLINICAL GENETICS
Volume 90, Issue 6, Pages 536-539
Publisher
Wiley
Online
2016-02-16
DOI
10.1111/cge.12762

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