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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC26A1, IDUA
(L56fs)
Duplication
(frameshift variant +3 more)
See cases
+2 more
GPathogenic
IDUA
(W402* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-I-S
+6 more
GPathogenic