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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT1
(N188S)
Single nucleotide variant
(missense variant)
Ichthyosis, annular epidermolytic, 2
+1 more
GPathogenic/Likely pathogenic
KRT1
(I479F)
Single nucleotide variant
(missense variant)
Ichthyosis, annular epidermolytic, 2
GPathogenic
KRT1
(I479T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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