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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…
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Keywords:
minigene splicing;
brca2 exons;
genetics;
spliceogenic variants ... See more keywords
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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…
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Keywords:
splicing assays;
intronic variants;
deep intronic;
minigene splicing ... See more keywords