KEGG   VARIANT: 22872v1
Entry
22872v1                      Variant                               
Name
SEC31A mutation
Type
Loss of function
Gene
SEC31A  protein transport protein Sec31A isoform 1 [KO:K14005]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610257
Network
nt06550  Lysosome biogenesis
Disease
H03035  Halperin-Birk syndrome
Reference
PMID:30464055
  Authors
Halperin D, Kadir R, Perez Y, Drabkin M, Yogev Y, Wormser O, Berman EM, Eremenko E, Rotblat B, Shorer Z, Gradstein L, Shelef I, Birk R, Abdu U, Flusser H, Birk OS
  Title
SEC31A mutation affects ER homeostasis, causing a neurological syndrome.
  Journal
J Med Genet 56:139-148 (2019)
DOI:10.1136/jmedgenet-2018-105503
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