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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease congenital bilateral absence of vas deferens
Comorbidity C0021359|infertile
Sentences 5
PubMedID- 25010724 Conspicuously higher frequency of heterozygote f508del mutation was detected in infertile males with non-cbavd obstructive azoospermia (11.6%) and spermatogenic failure (7.3%).
PubMedID- 22842702 Samples obtained from 109 chinese infertile males with cbavd and 104 normal controls were analyzed for the presence of cftr (tg)m(t)n, m470v and f508del by pcr amplification followed by direct sequencing.
PubMedID- 21976147 Conclusion: the common cftr mutations were detected in 9/53(17%) infertile men with non-cavd obstructive azoospermia.
PubMedID- 25617301 Re: increased frequency of cftr gene mutations identified in indian infertile men with non-cbavd obstructive azoospermia and spermatogenic failure.
PubMedID- 25895795 Re: increased frequency of cftr gene mutations identified in indian infertile men with non-cbavd obstructive azoospermia and spermatogenic failure.

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