1 protein found in SwissVar (1 variants)
with gene/protein name Q9UJS0
Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.
Accession | Entry name | Disease | Variants | 3D mapping (variant position) |
---|---|---|---|---|
Q9UJS0 | CMC2_HUMAN | citrullinemia 2 | ||
Q9UJS0 | CMC2_HUMAN | cholestasis, neonatal intrahepatic, caused by citrin deficiency | p.Glu601Lys |
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