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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC17A5
(T178fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SLC17A5
Deletion
(splice donor variant)
Sialic acid storage disease, severe infantile type
GLikely pathogenic