reference/20260393

http://rdf.ncbi.nlm.nih.gov/pubchem/reference/20260393

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issn	1471-2350
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pageRange	147-
publicationName	BMC Medical Genetics
startingPage	147
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bibliographicCitation	Cattaneo M, La Sala L, Rondinelli M, Errichiello E, Zuffardi O, Puca AA, Genovese S, Ceriello A. A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients. BMC Medical Genomics. 2017 Dec 13;18(1):147. doi: 10.1186/s12881-017-0508-2.
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date	2017-12-13-04:00^^<http://www.w3.org/2001/XMLSchema#date>
identifier	https://doi.org/10.1186/s12881-017-0508-2 https://pubmed.ncbi.nlm.nih.gov/29237418 https://pubmed.ncbi.nlm.nih.gov/PMC5729406
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language	English
source	https://pubmed.ncbi.nlm.nih.gov/ https://scigraph.springernature.com/ https://www.crossref.org/
title	A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients
discusses	http://id.nlm.nih.gov/mesh/M0514954 http://id.nlm.nih.gov/mesh/C565733 http://id.nlm.nih.gov/mesh/M0029740 http://id.nlm.nih.gov/mesh/M0027616 http://id.nlm.nih.gov/mesh/M0019167 http://id.nlm.nih.gov/mesh/M0013341 http://id.nlm.nih.gov/mesh/M0359363
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Total number of triples: 47.