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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GTF2E2
Single nucleotide variant
(intron variant)
Trichothiodystrophy 6, nonphotosensitive
+1 more
GBenign
GTF2E2
(D187Y)
Single nucleotide variant
(missense variant)
Trichothiodystrophy 6, nonphotosensitive
GPathogenic
GTF2E2
(A150P)
Single nucleotide variant
(missense variant)
Trichothiodystrophy 6, nonphotosensitive
GPathogenic
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