Mutation Details for c.2620-17G>A
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cDNA Name
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c.2620-17G>A
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Exon or Intron
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intron 15
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Legacy Exon or Intron
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intron 14a
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2752-17G/A
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Other Details
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Contributors
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Girodon et al.
2003-05-30
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Institute
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Service de Biochimie-Genetique Hopital Henri-Mondor,France
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Submitted Phenotype Details
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The female individual is the mother of a fetus with FBH; 2752-17G/A considered as a polymorphism (pers. corr. Girodon)
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Reference
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Girodon et al. 2003
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