KEGG   VARIANT: 404672v1
Entry
404672v1                      Variant                              
Name
GTF2H5 mutation
Type
Loss of function
Gene
GTF2H5  general transcription factor IIH subunit 5 [KO:K10845]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608780
Network
nt06502  Nucleotide excision repair
Disease
H00866  Trichothiodystrophy
Reference
PMID:30359777
  Authors
Michalska E, Koppolu A, Dobrzanska A, Ploski R, Gruszfeld D
  Title
A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report.
  Journal
Eur J Med Genet 62:103557 (2019)
DOI:10.1016/j.ejmg.2018.10.009
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