KEGG   VARIANT: 54892v1
Entry
54892v1                      Variant                               
Name
NCAPG2 mutation
Gene
NCAPG2  non-SMC condensin II complex subunit G2 [KO:K11492]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutaitons
OmimVar: 608532
Network
nt06512  Chromosome cohesion and segregation
Disease
H02707  Khan-Khan-Katsanis syndrome
Reference
PMID:30609410
  Authors
Khan TN, Khan K, Sadeghpour A, Reynolds H, Perilla Y, McDonald MT, Gallentine WB, Baig SM, Davis EE, Katsanis N
  Title
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.
  Journal
Am J Hum Genet 104:94-111 (2019)
DOI:10.1016/j.ajhg.2018.11.017
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