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disease: Molybdenum cofactor deficiency, complementation group B

id9039
nameMolybdenum cofactor deficiency, complementation group B
variant-disease NM_004531.5(MOCS2):c.539_540del (p.Lys180fs) AND Molybdenum cofactor deficiency, complementation group B
NM_004531.5(MOCS2):c.567A>C (p.Ter189Tyr) AND Molybdenum cofactor deficiency, complementation group B
NM_004531.5(MOCS2):c.346_349del (p.Val116fs) AND Molybdenum cofactor deficiency, complementation group B
NM_004531.5(MOCS2):c.-54A>C AND Molybdenum cofactor deficiency, complementation group B
NM_004531.5(MOCS2):c.502G>A (p.Glu168Lys) AND Molybdenum cofactor deficiency, complementation group B
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