KEGG   VARIANT: 7737v1
Entry
7737v1                      Variant                                
Name
RNF113A mutation
Type
Loss of function
Gene
RNF113A  ring finger protein 113A [KO:K13127]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300951
Network
nt06547  Spliceosome
Disease
H00866  Trichothiodystrophy
Reference
PMID:31880405
  Authors
Mendelsohn BA, Beleford DT, Abu-El-Haija A, Alsaleh NS, Rahbeeni Z, Martin PM, Rego S, Huang A, Capodanno G, Shieh JT, Van Ziffle J, Risch N, Alkuraya FS, Slavotinek AM
  Title
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
  Journal
Am J Med Genet A 182:513-520 (2020)
DOI:10.1002/ajmg.a.61450
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