KEGG   VARIANT: 10073v1
Entry
10073v1                      Variant                               
Name
SNUPN mutation
Type
Loss of function
Gene
SNUPN  snurportin 1 [KO:K13151]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607902
Network
nt06547  Spliceosome
Disease
H00593  Limb-girdle muscular dystrophy
Reference
  Authors
Nashabat M, Nabavizadeh N, Saracoglu HP, Saribas B, Avci S, Borklu E, Beillard E, Yilmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bultmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schadlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A, Streata I, Glaser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bonnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N
  Title
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
  Journal
Nat Commun 15:1758 (2024)
DOI:10.1038/s41467-024-45933-5
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