KEGG   VARIANT: 64682v1
Entry
64682v1                      Variant                               
Name
ANAPC1 mutation
Gene
ANAPC1  anaphase promoting complex subunit 1 [KO:K03348]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608473
Network
nt06512  Chromosome cohesion and segregation
Disease
H01734  Rothmund-Thomson syndrome
Reference
PMID:31303264
  Authors
Ajeawung NF, Nguyen TTM, Lu L, Kucharski TJ, Rousseau J, Molidperee S, Atienza J, Gamache I, Jin W, Plon SE, Lee BH, Teodoro JG, Wang LL, Campeau PM
  Title
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
  Journal
Am J Hum Genet 105:625-630 (2019)
DOI:10.1016/j.ajhg.2019.06.011
LinkDB

DBGET integrated database retrieval system