KEGG   VARIANT: 6606v1
Entry
6606v1                      Variant                                
Name
SMN1 mutation
Type
Loss of function
Gene
SMN1  survival of motor neuron 1, telomeric [KO:K13129]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600354
Network
nt06547  Spliceosome
Disease
H00455  Spinal muscular atrophy
Reference
PMID:8922999
  Authors
Parsons DW, McAndrew PE, Monani UR, Mendell JR, Burghes AH, Prior TW
  Title
An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary  SMA-determining gene.
  Journal
Hum Mol Genet 5:1727-32 (1996)
DOI:10.1093/hmg/5.11.1727
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