Mutation Details for c.508_510delCGT
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.508_510delCGT
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Protein Name
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p.Arg170del
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Exon or Intron
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Other Details
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Contributors and Institutes
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Acutual address: Biomedical Research Institute, Universidad de las Américas, Quito, Ecuador, South America. | - | |
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Submitted Phenotype Details
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Reference
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Human Mutation, 1997. Vol 14, 348-250
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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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