The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification

The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification

Abstract Background Exon deletions are generally considered pathogenic, particularly when they are located out of frame. Here, we describe a pediatric, female patient presenting with hypercalcemia and a small cell carcinoma of the ovary, hypercalcemic type, and carrying a germline de novo SMARCA4 ex...

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Dettagli Bibliografici
Autori principali: Anna Byrjalsen, Ulrik Stoltze, Mana Mehrjouy, Jane Hübertz Frederiksen, Mads Bak, Ulf Birkedal, Henrik Hasle, Anne‐Marie Gerdes, Kjeld Schmiegelow, Karin Wadt, Thomas van Overeem Hansen
Natura: Articolo
Lingua:English
Pubblicazione: Wiley 2023-10-01
Serie:Molecular Genetics & Genomic Medicine
Soggetti:
de novo
single‐exon deletion
small cell carcinoma of the ovary
SMARCA4
splicing
variant classification
Accesso online:https://doi.org/10.1002/mgg3.2232

Accesso online

https://doi.org/10.1002/mgg3.2232

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