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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGFBI
(P551Q +1 more)
Single nucleotide variant
(missense variant)
Lattice corneal dystrophy Type I
GPathogenic
TGFBI
(R124H)
Single nucleotide variant
(missense variant)
Lattice corneal dystrophy Type I
+2 more
GPathogenic
TGFBI
(R124C)
Single nucleotide variant
(missense variant)
Epithelial-stromal TGFBI dystrophy
+2 more
GPathogenic
TGFBI
(R555W)
Single nucleotide variant
(missense variant)
Avellino corneal dystrophy
+7 more
GPathogenic
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