Varaico: Literature-Extracted Genetic Variants

Gene:PAPSS1
Variant:p.Y330C
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PAPSS1

NM_005443.5:p.Y330C

Associated Papers

Transfer RNA supplementation rescues HARS deficiency in a humanized yeast model of Charcot-Marie-Tooth disease.

Wilhelm SDP et al.

Nucleic Acids Research, 2024

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