Mutation Details for c.3718-130T>C
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cDNA Name
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c.3718-130T>C
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Exon or Intron
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intron 22
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Legacy Exon or Intron
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intron 19
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3850-129T/C
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Other Details
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The presumed polymorphism 3850-129T/C was detected by DGGE in a Spanish patient.
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Contributors
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Casals T,
Gimenez J,
Ramos MD,
Nunes V,
Estivill X.
1996-08-08
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Institute
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IRO,
Barcelona, Spain.
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Submitted Phenotype Details
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Reference
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Casals et al. (NL#69)
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