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
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia
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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