Mutation Details for c.2106C>G
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cDNA Name
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c.2106C>G
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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2238C/G
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Other Details
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no change (Leu at 702)
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Contributors
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Bienvenu T,
Cazeneuve C,
Kaplan JC,
Beldjord C
1993-02-24
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Institute
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Hopitaux de Paris
Paris, France
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Submitted Phenotype Details
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Reference
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Bienvenu et al. (NL#61)
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