reference/26394661

http://rdf.ncbi.nlm.nih.gov/pubchem/reference/26394661

Outgoing Links

Predicate	Object
contentType	Case Reports\|Journal Article\|Research Support, Non-U.S. Gov't
issn	1471-2350
issueIdentifier	1
pageRange	62-
publicationName	BMC Medical Genetics
startingPage	62
hasFundingAgency	http://rdf.ncbi.nlm.nih.gov/pubchem/organization/MD5_086b71f17f230eab19ddaa3be170b936 http://rdf.ncbi.nlm.nih.gov/pubchem/organization/MD5_bc156a67d2ff68e9339927af30a8aa86
bibliographicCitation	Kloth K, Synofzik M, Kernstock C, Schimpf-Linzenbold S, Schuettauf F, Neu A, Wissinger B, Weisschuh N. Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports. BMC Medical Genomics. 2019 Apr 08;20(1):62. doi: 10.1186/s12881-019-0795-x.
creator	http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_aabea2116d270c34cb4ea5a33f27101d http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_b42d080d9b91c94675dafcba51158717 http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_030ec92f9242a0daf56286e11be0546f http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-1047-6227 http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_b15520e0c065830d1143696d43ed705b http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_a3fe6a3530bc6d77a0fc70585b984199 http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_f1c53920db4d6d4514ce2cc58361face http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_959aac629a9fa74453cd1684fa9def59
date	2019-04-08-04:00^^<http://www.w3.org/2001/XMLSchema#date>
identifier	https://pubmed.ncbi.nlm.nih.gov/30961538 https://doi.org/10.1186/s12881-019-0795-x https://pubmed.ncbi.nlm.nih.gov/PMC6454730
isPartOf	http://rdf.ncbi.nlm.nih.gov/pubchem/journal/21921 https://portal.issn.org/resource/ISSN/1471-2350
language	English
source	https://pubmed.ncbi.nlm.nih.gov/ https://scigraph.springernature.com/ https://www.crossref.org/
title	Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
discusses	http://id.nlm.nih.gov/mesh/M0013341 http://id.nlm.nih.gov/mesh/M0546303 http://id.nlm.nih.gov/mesh/M0027616
hasSubjectTerm	http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604 http://purl.org/au-research/vocabulary/anzsrc-for/2008/06
discussesAsDerivedByTextMining	http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID184 http://rdf.ncbi.nlm.nih.gov/pubchem/gene/MD5_ea8f3357e6accc3b7a61d6538fe76bed http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID8704 http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID7062

Incoming Links

Predicate	Subject
isDiscussedBy	http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID84233

Total number of triples: 38.