RecName: Full=Nondiscriminating glutamyl-tRNA synthetase EARS2, mitoch - Protein

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Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review. [Neurobiol Dis. 2024]
Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review.
Pelayo G, Paiva Coelho M, Correia J, Bandeira A, Nogueira C, Vilarinho L, Martins E. Neurobiol Dis. 2024 Oct 1; 200:106644. Epub 2024 Aug 22.
EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer. [Cancer Treat Res Commun. 2022]
EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer.
Lehrer S, Rheinstein PH. Cancer Treat Res Commun. 2022; 32:100595. Epub 2022 Jun 28.
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation. [Brain. 2013]
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.
Talim B, Pyle A, Griffin H, Topaloglu H, Tokatli A, Keogh MJ, Santibanez-Koref M, Chinnery PF, Horvath R. Brain. 2013 Feb; 136(Pt 2):e228. Epub 2012 Sep 24.

RefSeq genomic sequence
See the genomic reference sequence for the EARS2 gene (NG_027752.2).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the EARS2 gene.

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Q5JPH6 [Domain Mapping of Disease Mut...]
Q5JPH6
Domain Mapping of Disease Mutations
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