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A rare frameshift variant in trans with the IVS9-5T allele of CFTR in a Chinese pedigree with congenital aplasia of vas deferens

PURPOSE: Congenital aplasia of vas deferens (CAVD) is an atypical form of cystic fibrosis (CF) and causes obstructive azoospermia and male infertility. Compound heterozygous variants of CFTR are the main cause of CAVD. However, most evidence comes from genetic screening of sporadic cases and little...

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Detalhes bibliográficos
Publicado no:J Assist Reprod Genet
Main Authors: Ge, Bin, Zhang, Mingzhe, Wang, Ruyi, Wang, Dejing, Li, Tengyan, Li, Hongjun, Wang, Binbin
Formato: Artigo
Idioma:Inglês
Publicado em: Springer US 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6911126/
https://ncbi.nlm.nih.gov/pubmed/31709488
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10815-019-01617-4
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