ASD - ALTERNATIVE SPLICING


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FIELD NAME
FIELD VALUE
  
AEdbMotif ID:109
Internal ref. ID:
Submitter name:MAREK, STEFAN
Entry date:21-SEP-2004 10:21:31
Modification date:29-JAN-2005 17:00:00
 
Regulatory sequence name:smn2 exon 7
Entry type:Exon silencer
Sequence origin:Exonic
Organism:Homo sapiens, human
Binding factors:hnRNP A1
 
EMBL/Genbank/DDBJ/RefSeq Accession number:
Ensembl ID:
AEdb ID:
Sequence:TAGACA
Mutated regulatory sequence:
 
Methods:Unknown
Keywords:
 
Citation line:Kashima, T. and J. L. Manley. 2003. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat.Genet. 34:460-463.
PubMed ID:12833158
 
Comments:
(activated in workbench):Y
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