reference/34629387

http://rdf.ncbi.nlm.nih.gov/pubchem/reference/34629387

Outgoing Links

Predicate	Object
contentType	Journal Article\|Research Support, Non-U.S. Gov't
issn	2324-9269
issueIdentifier	1
pageRange	e2092-
publicationName	Molecular Genetics & Genomic Medicine
startingPage	e2092
hasFundingAgency	http://rdf.ncbi.nlm.nih.gov/pubchem/organization/MD5_c4fbd591c9086bb3a13c0fe3305066eb http://rdf.ncbi.nlm.nih.gov/pubchem/organization/MD5_487baf6554eb36bb22c6138d90a7c50f
bibliographicCitation	Li S, Yu S, Zhang Y, Wang Y, Jiang X, Wu C. Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome. Mol Genet Genomic Med. 2023 Jan;11(1):e2092. PMID: 36367347; PMCID: PMC9834191.
creator	http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_07a0e1ef3683ef0dbc2c5f7f71cd8cff http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_080011f67ff84be10359fbd737e3a48d http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_f1b721d6015c44a234be428c55097c0d http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-0272-6193 http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_891ba6e5f7569267c47859a1e7e931c5 http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_a12b7b9b060b4293c1a26cd67e48d3c9
date	2022-11-11-04:00^^<http://www.w3.org/2001/XMLSchema#date>
identifier	https://doi.org/10.1002/mgg3.2092 https://pubmed.ncbi.nlm.nih.gov/36367347 https://pubmed.ncbi.nlm.nih.gov/PMC9834191
isPartOf	https://portal.issn.org/resource/ISSN/2324-9269 http://rdf.ncbi.nlm.nih.gov/pubchem/journal/41103
language	English
source	https://www.crossref.org/ https://pubmed.ncbi.nlm.nih.gov/
title	Compound heterozygous loss‐of‐function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome
discusses	http://id.nlm.nih.gov/mesh/M0015042 http://id.nlm.nih.gov/mesh/M0574993 http://id.nlm.nih.gov/mesh/M0359363
hasPrimarySubjectTerm	http://id.nlm.nih.gov/mesh/D004827Q000235
hasSubjectTerm	http://id.nlm.nih.gov/mesh/D005190 http://id.nlm.nih.gov/mesh/D009154 http://id.nlm.nih.gov/mesh/D007231 http://id.nlm.nih.gov/mesh/D022821 http://id.nlm.nih.gov/mesh/D006801 http://id.nlm.nih.gov/mesh/D059014 http://id.nlm.nih.gov/mesh/D012640Q000235 http://id.nlm.nih.gov/mesh/D009687Q000235
discussesAsDerivedByTextMining	http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID10737 http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID9191 http://rdf.ncbi.nlm.nih.gov/pubchem/gene/MD5_bd0d87c067d2498955e0679e1d91c3dc

Incoming Links

Predicate	Subject
isDiscussedBy	http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID221927

Total number of triples: 41.