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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SERPINA12
(E351*)
Single nucleotide variant
(nonsense)
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
GPathogenic
SERPINA12
(R211*)
Single nucleotide variant
(nonsense)
not provided
GLikely benign