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Details on Person Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

Class:Id	LiteratureReference:5661029
_displayName	Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
_timestamp	2015-01-08 15:37:18
author	[Person:4755552] Schuurs-Hoeijmakers, Janneke H M [Person:5661068] Vulto-van Silfhout, Anneke T [Person:5661046] Vissers, Lisenka E L M [Person:5661051] van de Vondervoort, Ilse I G M [Person:5661067] van Bon, Bregje W M [Person:5661062] de Ligt, Joep [Person:4549377] Gilissen, Christian [Person:2466766] Hehir-Kwa, Jayne Y [Person:5661069] Neveling, Kornelia [Person:5661052] del Rosario, Marisol [Person:5661022] Hira, Gausiya [Person:5661043] Reitano, Santina [Person:5661010] Vitello, Aurelio [Person:5661015] Failla, Pinella [Person:5661035] Greco, Donatella [Person:5661016] Fichera, Marco [Person:5661038] Galesi, Ornella [Person:5661071] Kleefstra, Tjitske [Person:5661008] Greally, Marie T [Person:5661005] Ockeloen, Charlotte W [Person:5661020] Willemsen, Marjolein H [Person:5661060] Bongers, Ernie M H F [Person:2466841] Janssen, Irene M [Person:5623726] Pfundt, Rolph [Person:2466819] Veltman, Joris A [Person:5661063] Romano, Corrado [Person:5661021] Willemsen, Mich�l A [Person:3247981] van Bokhoven, Hans [Person:3247887] Brunner, Han G [Person:5661031] de Vries, Bert B A [Person:4755610] de Brouwer, Arjan P M
created	[InstanceEdit:5661045] Jassal, Bijay, 2015-01-08
journal	J. Med. Genet.
pages	802-11
pubMedIdentifier	24123876
title	Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
volume	50
year	2013
(literatureReference)	[FailedReaction:5661039] Defective SLC9A6 does not exchange Na+ for H+ across the early endosome membrane [Homo sapiens]
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