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| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v3.9 | GTF2H4 |
Rhys Dore gene: GTF2H4 was added gene: GTF2H4 was added to Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome. Sources: Research Mode of inheritance for gene: GTF2H4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2H4 were set to 40924475 Phenotypes for gene: GTF2H4 were set to xeroderma pigmentosum Penetrance for gene: GTF2H4 were set to unknown Review for gene: GTF2H4 was set to AMBER Added comment: Possible Amber gene. One patient with a clinical diagnosis of XP with compound heterozygous variants in GTF2H4 with support for loss-of-function from a lentiviral assay. Sources: Research |
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