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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALE
Single nucleotide variant
(splice acceptor variant)
UDPglucose-4-epimerase deficiency
+1 more
GPathogenic/Likely pathogenic
GALE
Single nucleotide variant
(splice donor variant)
UDPglucose-4-epimerase deficiency
GLikely pathogenic