Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
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3. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders;Travaglini;Eur J Hum Genet,2013
4. INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse;Jacoby;Nat Genet,2009
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