Mutation Details for c.744-2a>G
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cDNA Name
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c.744-2a>G
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Exon or Intron
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intron 6
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Other Details
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Contributors and Institutes
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| L. Ramos | - | CGMM-IDIBELL. Barcelona. Spain | | J. Giménez | - | CGMM-IDIBELL. Barcelona. Spain | | O. Asensio | - | CF Unit. C.S. Parc Taulí. Sabadell. Spain | | T. Casals | - | CGMM-IDIBELL. Barcelona. Spain |
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Submitted Phenotype Details
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Spanish CF patient, female (8 months) presenting meconium ileus, positive sweat test and the genotype F508del / 876-2A>G
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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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