http://rdf.ncbi.nlm.nih.gov/pubchem/reference/10181373

Outgoing Links

Predicate Object
contentType Journal Article|Research Support, Non-U.S. Gov't
endingPage 1768
issn 1018-4813
1476-5438
issueIdentifier 12
pageRange 1763-1768
publicationName European journal of human genetics : EJHG
startingPage 1763
hasFundingAgency http://rdf.ncbi.nlm.nih.gov/pubchem/organization/MD5_227180700055de6864b77cc9668de0d8
http://rdf.ncbi.nlm.nih.gov/pubchem/organization/MD5_06aba5a94448c92faf09747c7e7c67bd
isSupportedBy http://rdf.ncbi.nlm.nih.gov/pubchem/grant/MD5_9eae856577367ab66ce09095c9cabc76
http://rdf.ncbi.nlm.nih.gov/pubchem/grant/MD5_13a4c0ca2b479ecba128ac550339c4f3
http://rdf.ncbi.nlm.nih.gov/pubchem/grant/MD5_9a4349f3e4081cd79b8eda237fca32c3
http://rdf.ncbi.nlm.nih.gov/pubchem/grant/MD5_9c5ab337936d205a6dc464b6a2e5ff5d
http://rdf.ncbi.nlm.nih.gov/pubchem/grant/MD5_14afc0eacf9c3fc313ee924bcb5165bd
bibliographicCitation Bourinaris T, Smedley D, Cipriani V, Sheikh I, Athanasiou-Fragkouli A, Chinnery P, Morris H, Real R, Harrison V, Reid E, Wood N; Genomics England Research Consortium, Vandrovcova J, Houlden H, Tucci A. Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project. Eur J Hum Genet. 2020 Dec;28(12):1763–8. PMID: 32934340; PMCID: PMC7784862.
creator http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-5473-3774
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_8315e30b4c88a1e2d0eb672bd52c1a54
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_8a478cf7de72dc71683c8db54e9b05ed
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_b4e2b89cb3b567da7f63a0c3e9a2f4b5
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0001-8117-742X
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-7065-6617
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-3952-371X
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_2d7689f5e8ec1210977d97cd8a87f472
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-2866-7777
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_89f744e21a22e284c4bcec26c98f9289
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_4c304ff9455fb14304f2ead2de6db44a
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-5836-9850
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0001-5644-0070
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_e2f1c8db5dcd2006f494f5aa8975399c
date 2020-09-15^^<http://www.w3.org/2001/XMLSchema#date>
identifier https://doi.org/10.1038/s41431-020-00720-w
https://pubmed.ncbi.nlm.nih.gov/PMC7784862
https://pubmed.ncbi.nlm.nih.gov/32934340
isPartOf https://portal.issn.org/resource/ISSN/1476-5438
https://portal.issn.org/resource/ISSN/1018-4813
http://rdf.ncbi.nlm.nih.gov/pubchem/journal/8515
language English
source https://pubmed.ncbi.nlm.nih.gov/
https://scigraph.springernature.com/
https://www.crossref.org/
title Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project
discusses http://id.nlm.nih.gov/mesh/M0444144
http://id.nlm.nih.gov/mesh/M0003559
hasPrimarySubjectTerm http://id.nlm.nih.gov/mesh/D002352Q000235
http://id.nlm.nih.gov/mesh/D015419Q000235
hasSubjectTerm http://id.nlm.nih.gov/mesh/D006801
http://id.nlm.nih.gov/mesh/D000368
http://id.nlm.nih.gov/mesh/D008297
http://id.nlm.nih.gov/mesh/D015419Q000473
http://id.nlm.nih.gov/mesh/D008875
http://id.nlm.nih.gov/mesh/D010641
http://id.nlm.nih.gov/mesh/D000293
http://id.nlm.nih.gov/mesh/D002648
http://id.nlm.nih.gov/mesh/D005260
http://id.nlm.nih.gov/mesh/D009154
http://id.nlm.nih.gov/mesh/D000328
discussesAsDerivedByTextMining http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID10395
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/MD5_92b5c9500a13b14cec19f0863cb903ff
http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID10611
http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID9704
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/MD5_14b864f25180aece8f43e4d166f69d2a
http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID8541

Incoming Links

Predicate Subject
isDiscussedBy http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID51271

Showing number of triples: 1 to 64 of 64.