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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C1GALT1C1
(T54I +1 more)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GPathogenic
C1GALT1C1
(A20D)
Single nucleotide variant
(missense variant)
Abnormal protein O-linked glycosylation
GLikely pathogenic