KEGG   VARIANT: 50628v1
Entry
50628v1                      Variant                               
Name
GEMIN4 mutation
Type
Loss of function
Gene
GEMIN4  gem nuclear organelle associated protein 4 [KO:K13132]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606969
Network
nt06547  Spliceosome
Disease
H02986  Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Reference
  Authors
Patel N, Anand D, Monies D, Maddirevula S, Khan AO, Algoufi T, Alowain M, Faqeih E, Alshammari M, Qudair A, Alsharif H, Aljubran F, Alsaif HS, Ibrahim N, Abdulwahab FM, Hashem M, Alsedairy H, Aldahmesh MA, Lachke SA, Alkuraya FS
  Title
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
  Journal
Hum Genet 136:205-225 (2017)
DOI:10.1007/s00439-016-1747-6
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