KEGG   VARIANT: 6607v1
Entry
6607v1                      Variant                                
Name
SMN2 mutation
Type
Gain of function
Gene
SMN2  survival of motor neuron 2, centromeric [KO:K13129]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601627
Network
nt06547  Spliceosome
Disease
H00455  Spinal muscular atrophy
Reference
PMID:19716110
  Authors
Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, Burghes AH, Kissel JT
  Title
A positive modifier of spinal muscular atrophy in the SMN2 gene.
  Journal
Am J Hum Genet 85:408-13 (2009)
DOI:10.1016/j.ajhg.2009.08.002
LinkDB

DBGET integrated database retrieval system