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Article

Expanding phenotype heterogeneity of NARS2 by presenting subdural hematoma and parenchymal hemorrhage.

Journal of clinical laboratory analysis - 1 Nov 2023

Khodaeian Mehrnoosh, Bitarafan Fatemeh, Garrousi Fatemeh, Sardehie Elham Amjadi, Pak Neda, Hosseinpour Sareh, Shakiba Marjan, Falah Masoumeh, Garshasbi Masoud, Tavasoli Ali Reza

Abstract excerpt

BACKGROUND: NARS2 encodes mitochondrial Asparaginyl-tRNA Synthetase 2, which catalyzes the aminoacylation of tRNA-Asn in the mitochondria. To date, 24 variants have been reported in NARS2 gene in 35 patients. The phenotypic variability of NARS2-associated disorder is broad, ranging from neurodevelopmental disorders to hearing loss. In this study, we report some novel imaging findings in an Iranian patient...

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Identifiers

PMID: 37950505
DOI: 10.1002/jcla.24983
PMCID: PMC10749492

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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