Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2019.00503
Abstract: A relevant fraction of BRCA2 variants is associated with splicing alterations and with an increased risk of hereditary breast and ovarian cancer (HBOC). In this work, we have carried out a thorough study of variants… read more here.
Keywords: minigene splicing; brca2 exons; genetics; spliceogenic variants ... See more keywords
Novel pathogenic splicing mutation in COL11A1 in a patient with Stickler syndrome verified by minigene splicing assay
Sign Up to like & getrecommendations! Published in 2025 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2025.1642604
Abstract: Background Stickler syndrome (STL) is a group of related connective tissue disorders characterized by heterogeneous clinical presentations with varying degrees of orofacial, ocular, skeletal, and auditory abnormalities. However, this condition is difficult to diagnose on… read more here.
Keywords: minigene splicing; col11a1; novel pathogenic; pathogenic splicing ... See more keywords
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24021562
Abstract: PAX6 haploinsufficiency causes aniridia, a congenital eye disorder that involves the iris, and foveal hypoplasia. Comprehensive screening of the PAX6 locus, including the non-coding regions, by next-generation sequencing revealed four deep-intronic variants with potential effects… read more here.
Keywords: splicing assays; intronic variants; deep intronic; minigene splicing ... See more keywords