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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PORCN
(G168R +1 more)
Single nucleotide variant
(missense variant)
Focal dermal hypoplasia
GPathogenic
PORCN
Single nucleotide variant
(splice acceptor variant)
Focal dermal hypoplasia
GPathogenic