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cDNA Name
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c.-751a>G
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Exon or Intron
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promoter
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Other Details
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This mutation was identified in one CF chromosome of Indian patient and on other 1001+11C>T other CF chromosome. Semen volume <1.5 ml, acidic pH, physical examination confirmed absence of vas deferens
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Contributors and Institutes
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| Kabir Sachdeva | - | Sir Ganga Ram Hospital | | Renu Saxena | - | Sir Ganga Ram Hospital | | I.C.Verma | - | Sir Ganga Ram Hospital |
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Submitted Phenotype Details
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identified in Indian CBAVD patient in conjunction with c.869+11C>T (1001+11C>T) on other chromosome
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Reference
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