Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC3
Variant:p.G191V
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EXOSC3

NM_016042.4:p.G191V

Associated Papers

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."