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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTOF
Single nucleotide variant
(intron variant)
Tricho-oculo-dermo-vertebral syndrome
GLikely pathogenic
OTOF
Single nucleotide variant
(splice donor variant)
Tricho-oculo-dermo-vertebral syndrome
+1 more
GLikely pathogenic
OTOF
(K820* +2 more)
Single nucleotide variant
(nonsense)
Tricho-oculo-dermo-vertebral syndrome
+1 more
GPathogenic
OTOF
(G1138D +2 more)
Single nucleotide variant
(missense variant)
Tricho-oculo-dermo-vertebral syndrome
GLikely pathogenic
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