KEGG   VARIANT: 1911v1
Entry
1911v1                      Variant                                
Name
PHC1 mutation
Type
Loss of function
Gene
PHC1  polyhomeotic homolog 1 [KO:K11456]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602978
Network
nt06523  Epigenetic regulation by Polycomb complexes
Disease
H00269  Primary microcephaly
Reference
PMID:23418308
  Authors
Awad S, Al-Dosari MS, Al-Yacoub N, Colak D, Salih MA, Alkuraya FS, Poizat C
  Title
Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis.
  Journal
Hum Mol Genet 22:2200-13 (2013)
DOI:10.1093/hmg/ddt072
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