KEGG   VARIANT: 90417v1
Entry
90417v1                      Variant                               
Name
KNSTRN mutation
Type
Loss of function
Gene
KNSTRN  kinetochore localized astrin (SPAG5) binding protein [KO:K26097]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 614718
Network
nt06515  Regulation of kinetochore-microtubule interactions
Disease
H02585  Roifman-Chitayat syndrome
Reference
PMID:19863561
  Authors
Roifman CM, Chitayat D
  Title
Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome.
  Journal
Clin Genet 76:449-57 (2009)
DOI:10.1111/j.1399-0004.2009.01239.x
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