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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C1QC
(G164S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1QC
(Q74fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance