http://rdf.ncbi.nlm.nih.gov/pubchem/reference/4641937

Outgoing Links

Predicate Object
contentType Journal Article
endingPage 303
issn 1432-1203
0340-6717
issueIdentifier 4
pageRange 293-303
publicationName Human Genetics
startingPage 293
hasFundingAgency http://rdf.ncbi.nlm.nih.gov/pubchem/organization/MD5_969ccf6fe026f2f48265f62ea5c814c6
http://rdf.ncbi.nlm.nih.gov/pubchem/organization/MD5_e01b2377fafe8e7c7349c9fbe5f031a9
isSupportedBy http://rdf.ncbi.nlm.nih.gov/pubchem/grant/MD5_47191f2fd9bde3ee2ffd0f13be9c77db
http://rdf.ncbi.nlm.nih.gov/pubchem/grant/MD5_ee6e3a70120c8a269341fb288263b004
bibliographicCitation Stephen J, Nampoothiri S, Banerjee A, Tolman NJ, Penninger JM, Elling U, Agu CA, Burke JD, Devadathan K, Kannan R, Huang Y, Steinbach PJ, Martinis SA, Gahl WA, Malicdan MCV. Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy. Human Genetics. 2018 Apr 24;137(4):293–303. doi: 10.1007/s00439-018-1882-3.
creator http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_e3c1c964a0d277fadcb38b56c788122c
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-2959-1583
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_69330bddc880973b1409249c6911b122
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-9575-0722
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_620187c548ba555cf37ca3c96632cf29
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_7cf9317957c5b53ef8a1fe977b955ae0
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_041ac51d6f86a4e8506043c39352d3de
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_eb129f1024e35bfc41e7ece02e0e70d5
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_fb2fcfaaf4290dcacac128e2a296f2a7
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_369edfd67e4f3f9342188ab2975281e3
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_a7cd37e939b38c9387c3a716d4497f3f
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_c7c61a6a451036ca7afca5cfcb790af0
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_dc21a027dd3aca2866ae78448e99d472
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_d010f0099806e0e036c1f1e7d9916651
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_fa83cb32c1ceef36c05d82c2129260aa
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_5e92582a8cb6ce5e503ddc6e8ce0b9d3
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_1bb2ba4ad484a3c74ca76e5baf5d4834
date 2018-04-24^^<http://www.w3.org/2001/XMLSchema#date>
identifier https://pubmed.ncbi.nlm.nih.gov/29691655
https://pubmed.ncbi.nlm.nih.gov/PMC7251970
https://doi.org/10.1007/s00439-018-1882-3
isPartOf http://rdf.ncbi.nlm.nih.gov/pubchem/journal/4137
https://portal.issn.org/resource/ISSN/0340-6717
https://portal.issn.org/resource/ISSN/1432-1203
language English
source https://pubmed.ncbi.nlm.nih.gov/
https://scigraph.springernature.com/
https://www.crossref.org/
title Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy
discusses http://id.nlm.nih.gov/mesh/M0000930
http://id.nlm.nih.gov/mesh/M0022507
http://id.nlm.nih.gov/mesh/M0025317
http://id.nlm.nih.gov/mesh/M0019194
hasPrimarySubjectTerm http://id.nlm.nih.gov/mesh/D001284Q000235
http://id.nlm.nih.gov/mesh/D014637Q000235
http://id.nlm.nih.gov/mesh/D012640Q000235
http://id.nlm.nih.gov/mesh/D008831Q000235
hasSubjectTerm http://id.nlm.nih.gov/mesh/D007223
http://id.nlm.nih.gov/mesh/D000483
http://id.nlm.nih.gov/mesh/D001284Q000503
http://id.nlm.nih.gov/mesh/D008831Q000503
http://id.nlm.nih.gov/mesh/D006801
http://id.nlm.nih.gov/mesh/D046249Q000235
http://id.nlm.nih.gov/mesh/D012343Q000235
http://id.nlm.nih.gov/mesh/D015971
http://id.nlm.nih.gov/mesh/D000073658Q000235
http://id.nlm.nih.gov/mesh/D002675
http://id.nlm.nih.gov/mesh/D000073359
http://id.nlm.nih.gov/mesh/D010375
http://id.nlm.nih.gov/mesh/D008297
http://id.nlm.nih.gov/mesh/D000604Q000235
http://id.nlm.nih.gov/mesh/D012640Q000503
http://id.nlm.nih.gov/mesh/D016601Q000235
discussesAsDerivedByTextMining http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID6996
http://rdf.ncbi.nlm.nih.gov/pubchem/protein/EC_6.1.1.9
http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID10395
http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID8489
http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID9191
http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID8652
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/MD5_9ba031f95a448b7e9512ac61a45c7a96

Incoming Links

Predicate Subject
isDiscussedBy http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID7407

Showing number of triples: 1 to 74 of 74.