reference/28402001

http://rdf.ncbi.nlm.nih.gov/pubchem/reference/28402001

Outgoing Links

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contentType	Case Reports\|Journal Article\|Research Support, Non-U.S. Gov't
endingPage	887
issn	1018-4813 1476-5438
issueIdentifier	6
pageRange	879-887
publicationName	European journal of human genetics : EJHG
startingPage	879
hasFundingAgency	http://rdf.ncbi.nlm.nih.gov/pubchem/organization/MD5_bf9c8e5c69ff222e3ee2ff0fc4d2b289
bibliographicCitation	Stalke A, Pfister E, Baumann U, Eilers M, Schäffer V, Illig T, Auber B, Schlegelberger B, Brackmann R, Prokisch H, Krooss S, Bohne J, Skawran B. Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export. European Journal of Human Genetics. 2019 Feb 05;27(6):879–87. doi: 10.1038/s41431-019-0345-1.
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date	2019-02-05-04:00^^<http://www.w3.org/2001/XMLSchema#date>
identifier	https://doi.org/10.1038/s41431-019-0345-1 https://pubmed.ncbi.nlm.nih.gov/30723317 https://pubmed.ncbi.nlm.nih.gov/PMC6777614
isPartOf	http://rdf.ncbi.nlm.nih.gov/pubchem/journal/8515 https://portal.issn.org/resource/ISSN/1018-4813 https://portal.issn.org/resource/ISSN/1476-5438
language	English
source	https://pubmed.ncbi.nlm.nih.gov/ https://scigraph.springernature.com/ https://www.crossref.org/
title	Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export
discusses	http://id.nlm.nih.gov/mesh/M0440154 http://id.nlm.nih.gov/mesh/M0005152 http://id.nlm.nih.gov/mesh/M000624072
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Incoming Links

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Total number of triples: 43.