Varaico: Literature-Extracted Genetic Variants

Gene:UXS1
Variant:p.E90G
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UXS1

NM_001253875.2:p.E90G

Associated Papers

A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.

Jacobs J et al.

Nature, 2025

40836090 (PubMed )
Supplement: 41586_2025_9397_MOESM12_ESM.xlsx › ED_pannel_6f
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