Publications by authors named "Khush Bakhat"

Article Synopsis
  • Congenital bilateral absence of vas deferens (CBAVD) is a condition linked to male infertility and involves defects in the development of reproductive structures.
  • This study investigated mutations in exon 10 of the CFTR gene, finding four mutations in six out of seventeen CBAVD patients in Pakistan, with two significant missense variants (V456A and K464E).
  • The research suggests that these mutations may negatively impact gene function, highlighting their importance in the development of genetic tests and treatments for male infertility associated with CBAVD.
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