Varaico: Literature-Extracted Genetic Variants

Gene:POGLUT2
Variant:p.R92Q
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POGLUT2

NM_024089.3:p.R92Q

Associated Papers

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.

Williams KB et al.

Human Molecular Genetics, 2019

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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."