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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KDF1
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
+1 more
GBenign
KDF1
(F251L)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
GPathogenic