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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GBE1
(H545R)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GLikely pathogenic
GBE1
Single nucleotide variant
(splice donor variant)
Glycogen storage disease, type IV
+1 more
GPathogenic