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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MOCS2
(L71fs +1 more)
Deletion
(frameshift variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
GPathogenic
MOCS2
(Y11*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Combined molybdoflavoprotein enzyme deficiency
+1 more
GPathogenic