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Inferring parental gonadal mosaicism in LMNA-associated muscular dystrophy by ultra-deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling
(Wiley-liss, div John Wiley & Sons Inc., 2019-03)
Nuclear laminopathies are a group of human genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina. Among them, mutations in LMNAcause diverse phenotypes. De novo LMNA variants have been ...