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| Photosensitivity Syndromes v1.10 | GTF2H4 | Zornitza Stark Marked gene: GTF2H4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v1.10 | GTF2H4 | Zornitza Stark Gene: gtf2h4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v1.10 | GTF2H4 |
Zornitza Stark gene: GTF2H4 was added gene: GTF2H4 was added to Photosensitivity Syndromes. Sources: Literature Mode of inheritance for gene: GTF2H4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2H4 were set to 40924495; 40924475 Phenotypes for gene: GTF2H4 were set to Xeroderma pigmentosa, MONDO:0019600, GTF2H4-related Review for gene: GTF2H4 was set to RED Added comment: Singe individual reported in two papers with biallelic LoF variants, one canonical splice site and the other frameshift. Supportive functional data. Sources: Literature |
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