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

ConclusionOur findings may broaden the mutation spectrum ofCFTR in CAVD patients and provide more familial evidence that the combination of a mild variant and a severe variant intrans ofCFTR can cause vas deferens malformation.
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research