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Property	Value
Working Groups	AG Rehling
Subproject	P13
Open Access	Yes
Publication Type	Journal Article
Peer Reviewed	Yes
PMID	30452684
DOI	10.1093/hmg/ddy305
Publication Year	2018
Title	Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy
Journal	Human Molecular Genetics
ISSN	0964-6906
eISSN	1460-2083
URL	http://dx.doi.org/10.1093/hmg/ddy305
Journal Abbreviation	Hum Mol Genet
Authors	Pacheu-Grau D, Callegari S, Emperador S, Thompson K, Aich A, Topol SE, Spencer EG, McFarland R, Ruiz-Pesini E, Torkamani A, Taylor RW, Montoya J, Rehling P
First Author	Pacheu-Grau D
Last Author	Rehling P
Scholia	Wikidata-based representation at Scholia

academic...05.pdfhttps://academic.oup.com/hmg/article-pdf/27/23/4135/26611836/ddy305.pdf Article fulltext

gro-2/59733http://resolver.sub.uni-goettingen.de/purl?gro-2/59733 GRO.publications identifier

NM_013337https://www.ncbi.nlm.nih.gov/nuccore/NM_013337 NCBI Nucleotoide

9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 NCBI Taxonomy (Homo sapiens)

0000-0003-2645-3983https://orcid.org/0000-0003-2645-3983 ORCID identifier (David Pacheu-Grau)

0000-0002-4402-945Xhttps://orcid.org/0000-0002-4402-945X ORCID identifier (Sylvie Callegari)

0000-0001-5661-5272https://orcid.org/0000-0001-5661-5272 ORCID identifier (Peter Rehling)

CVCL_0045https://scicrunch.org/resolver/CVCL_0045 SciCrunch identifier (RRID:CVCL_0045, HEK293)

CVCL_0063https://scicrunch.org/resolver/CVCL_0063 SciCrunch identifier (RRID:CVCL_0063, HEK293T)

Q93211778https://www.wikidata.org/wiki/Q93211778 Wikidata ID

PID	Type	Antigen symbol	Antibody Registry ID	Name
umg-sfb1190-antibody-primary-0706	primary	NDUFB8		Anti-NDUFB8
umg-sfb1190-antibody-primary-0707	primary	SDHB		anti SDHB
umg-sfb1190-antibody-primary-0708	primary	UQCRC2		QCR2; UQCR2
umg-sfb1190-antibody-primary-0710	primary	ACTB		actin beta
umg-sfb1190-antibody-primary-0711	primary	TIM22	AB_11183050	TIM22
umg-sfb1190-antibody-primary-0712	primary	SLC25A6	AB_2190370	ANT3Y; MGC17525

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University Medical Center Göttingen
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