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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PMVK
Deletion
(nonsense)
Porokeratosis of Mibelli
GPathogenic
PMVK
(R138* +2 more)
Single nucleotide variant
(nonsense)
Porokeratosis of Mibelli
GPathogenic