Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders

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Title
Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders
Authors
Keywords
Reverse phenotyping, Next generation sequencing, INPP5E, Joubert syndrome, MORM syndrome, RABL6, C9orf86
Journal
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Volume 20, Issue 2, Pages 286-295
Publisher
Elsevier BV
Online
2015-12-19
DOI
10.1016/j.ejpn.2015.11.012

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