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cDNA Name
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c.2812dupG
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Protein Name
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p.Val938GlyfsX37
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Exon or Intron
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Other Details
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The c.2812dupG mutation was detected by NGS (Next Sequencing Generation) and validated by Sanger sequencing in a Brazilian CF patient with PI, carrying [delta]F508 on the other chromosome.
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Contributors and Institutes
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| Cambraia A | - | Human Genetics Laboratory/ Oswaldo Cruz Institute/FIOCRUZ | | Cabello GMK | - | Human Genetics Laboratory/ Oswaldo Cruz Institute/FIOCRUZ | | Cabello PH | - | Human Genetics Laboratory/ Oswaldo Cruz Institute/FIOCRUZ | | Campos M Jr | - | Human Genetics Laboratory/ Oswaldo Cruz Institute/FIOCRUZ | | Zembrzuski VM | - | Human Genetics Laboratory/ Oswaldo Cruz Institute/FIOCRUZ |
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Submitted Phenotype Details
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The mutation was identified in a Brazilian CF patient (male, 25y) diagnosed at 1 month of age, being PI, with positive sweat tests and pulmonary disease: recurrent pneumonia, Sa, Pa and BCC colonization. He carries [delta]F508 on the other allele.
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Reference
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