KEGG   VARIANT: 2968v1
Entry
2968v1                      Variant                                
Name
GTF2H4 mutation
Type
Loss of function
Gene
GTF2H4  general transcription factor IIH subunit 4 [KO:K03144]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601760
Network
nt06502  Nucleotide excision repair
Disease
H01428  Xeroderma pigmentosum
Reference
PMID:40924475
  Authors
Fassihi H, Mohammed S, Nakazawa Y, Fawcett H, Turner S, Palfrey J, Garrood I, Abiona A, Morley AM, Shimada M, Kato K, Lehmann AR, Ogi T
  Title
XP-J, a ninth xeroderma pigmentosum complementation group, results from mutations in GTF2H4, encoding TFIIH-p52 subunit.
  Journal
J Clin Invest 135:195731 (2025)
DOI:10.1172/JCI195731
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