KEGG   VARIANT: 10992v1
Entry
10992v1                      Variant                               
Name
SF3B2 mutation
Type
Loss of function
Gene
SF3B2  splicing factor 3b subunit 2 [KO:K12829]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605591
Network
nt06547  Spliceosome
Disease
H02673  Craniofacial microsomia
Reference
  Authors
Timberlake AT, Griffin C, Heike CL, Hing AV, Cunningham ML, Chitayat D, Davis MR, Doust SJ, Drake AF, Duenas-Roque MM, Goldblatt J, Gustafson JA, Hurtado-Villa P, Johns A, Karp N, Laing NG, Magee L, Mullegama SV, Pachajoa H, Porras-Hurtado GL, Schnur RE, Slee J, Singer SL, Staffenberg DA, Timms AE, Wise CA, Zarante I, Saint-Jeannet JP, Luquetti DV
  Title
Haploinsufficiency of SF3B2 causes craniofacial microsomia.
  Journal
Nat Commun 12:4680 (2021)
DOI:10.1038/s41467-021-24852-9
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