Mutation Details for c.955T>G
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cDNA Name
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c.955T>G
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Protein Name
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p.Phe319Val
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Exon or Intron
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exon 8
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Other Details
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Contributors and Institutes
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| Myrto Poulou | - | Department of Medical Genetics, Athens University | | Emmanuel Kanavakis | - | Department of Medical Genetics, Athens University | | Maria Tzetis | - | Department of Medical Genetics, Athens University |
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Submitted Phenotype Details
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This change has been identified through DGGE and direct sequencing, while screening a child presenting with meconium ileus at birth and failure to thrive. In addition In addition there was prenatal presentation of echogenic bowel. Sweat cholide levels of 59.5mmol/L
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Reference
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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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