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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:YARS2

Variant:p.I454insFs

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YARS2

NM_001040436.3:p.I454insFs

hg38:chr12:32747278 T>TC

Associated Papers

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.

Riley LG et al.

Haematologica, 2018

30026338 (PubMed )

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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."