Mutation Details for c.278T>A
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cDNA Name
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c.278T>A
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Protein Name
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p.Val93Asp
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Exon or Intron
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exon 4
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Other Details
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Pakistani
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Contributors and Institutes
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Martin J Schwarz | - | St Mary's Manchester, England. | Joanna Brock | - | St Mary's Manchester, England. |
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Submitted Phenotype Details
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High IRT on newborn screening. Two positive sweat tests.
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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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