Mutation Details for c.870-56C>G
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cDNA Name
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c.870-56C>G
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Exon or Intron
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intron 7
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Legacy Exon or Intron
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intron 6b
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1002-56C/G
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Other Details
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This polymoprthism was detected by DGGE before identification by direct sequencing.
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Contributors
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Claustres M,
Lauseel M,
Razakatzara G
1993-04-17
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Institute
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Laboratoire de Biochimie Genetique
Montpellier, France
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Submitted Phenotype Details
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1002-56C/G is considered to be a polymorphism (pers. corr. Claustres)
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Reference
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Claustres et al. (NL#58)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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