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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CSTA
(R58*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
CSTA
(K22*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CSTA
(Q86*)
Single nucleotide variant
(nonsense)
Peeling skin syndrome 4
GPathogenic
CSTA
Single nucleotide variant
(splice acceptor variant)
Peeling skin syndrome 4
GPathogenic
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