Mutation Details for c.579+34A>G
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cDNA Name
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c.579+34A>G
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Exon or Intron
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intron 5
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Legacy Exon or Intron
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intron 5
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711+34A->G
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Other Details
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The sequence alteration above was found once in 500 chromosomes screened.
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Contributors
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Tzetis M,
Antoniadi Th,
Kanavakis E
1996-02-21
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Institute
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First Department of Pediatrics,
Athens University,
Greece
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Submitted Phenotype Details
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Reference
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Tzetis et al. (NL#68)
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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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