Mutation Details for c.1584+63_1584+64ins11
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cDNA Name
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c.1584+63_1584+64ins11
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Exon or Intron
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intron 11
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Legacy Exon or Intron
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intron 10
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1716+63ins11nt
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Other Details
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Asymptomatic neonate
1716+63ins11nt=1716+51dupli11nt
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Contributors
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Férec C
1998-12-23
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Institute
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Laboratoire de Biogénétique,
University of Brest
Brest, France
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Submitted Phenotype Details
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The mutation was identified in 2 patients, one with neonatal hypertrypsinemia. (pers.corr. Ferec)
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Reference
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Férec 1998
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