KEGG   VARIANT: 9785v1
Entry
9785v1                      Variant                                
Name
DHX38 mutation
Type
Loss of function
Gene
DHX38  DEAH-box helicase 38 [KO:K12815]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605584
Network
nt06547  Spliceosome
Disease
H00527  Retinitis pigmentosa
Reference
PMID:24737827
  Authors
Ajmal M, Khan MI, Neveling K, Khan YM, Azam M, Waheed NK, Hamel CP, Ben-Yosef T, De Baere E, Koenekoop RK, Collin RW, Qamar R, Cremers FP
  Title
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.
  Journal
J Med Genet 51:444-8 (2014)
DOI:10.1136/jmedgenet-2014-102316
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