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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ENAM
(Y614* +1 more)
Single nucleotide variant
(nonsense)
Amelogenesis imperfecta type 1C
GPathogenic
ENAM
(P204fs +1 more)
Insertion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic