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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:YARS2

Variant:p.E264D

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YARS2

NM_001040436.3:p.E264D

hg38:chr12:32754073 T>A

Associated Papers

A kinetic model for compound heterozygous pathogenic variants in Tyrosyl-tRNA synthetase gene YARS2-Associated neonatal phenotype.

Christian T et al.

The Journal of Biological Chemistry, 2025

39675712 (PubMed )

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