Varaico: Literature-Extracted Genetic Variants

Gene:YARS2
Variant:p.R424Q
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YARS2

NM_001040436.3:p.R424Q

Associated Papers

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Rouzier C et al.

Annals of Clinical and Translational Neurology, 2024

38703036 (PubMed )
Supplement: ACN3-11-1478-s002.xlsx › adults_patients

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Riley LG et al.

Orphanet Journal of Rare Diseases, 2013

24344687 (PubMed )
Supplement: 1750-1172-8-193-S1.docx
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