reference/16917246

http://rdf.ncbi.nlm.nih.gov/pubchem/reference/16917246

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endingPage	614
issn	0964-6906 1460-2083
issueIdentifier	4
pageRange	598-614
publicationName	Human Molecular Genetics
startingPage	598
hasFundingAgency	http://rdf.ncbi.nlm.nih.gov/pubchem/organization/MD5_a4a4d52950e33267ecdc80a8f3c095ea http://rdf.ncbi.nlm.nih.gov/pubchem/organization/MD5_d2494069dc6820bab777c061f99b4aaa http://rdf.ncbi.nlm.nih.gov/pubchem/organization/MD5_a445ccb2d2e97e83c5e0e52a3e27128a http://rdf.ncbi.nlm.nih.gov/pubchem/organization/MD5_dfe2f777480a4df0fddf18f7ea211492 http://rdf.ncbi.nlm.nih.gov/pubchem/organization/MD5_e3a4c9e4d34fdbc8f3778981aa91e096 http://rdf.ncbi.nlm.nih.gov/pubchem/organization/MD5_0800f83fec9d5028489f572f0a35022c
bibliographicCitation	Khayat W, Hackett A, Shaw M, Ilie A, Dudding-Byth T, Kalscheuer VM, Christie L, Corbett MA, Juusola J, Friend KL, Kirmse BM, Gecz J, Field M, Orlowski J. A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. Hum Mol Genet. 2019 Feb 15;28(4):598–614. PMID: 30335141; PMCID: PMC6360272.
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date	2018-10-17-04:00^^<http://www.w3.org/2001/XMLSchema#date>
identifier	https://pubmed.ncbi.nlm.nih.gov/30335141 https://pubmed.ncbi.nlm.nih.gov/PMC6360272 https://doi.org/10.1093/hmg/ddy371
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language	English
source	https://www.crossref.org/ https://pubmed.ncbi.nlm.nih.gov/
title	A recurrent missense variant inSLC9A7causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation
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