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

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 exon 14 de...

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Detalles Bibliográficos
Autores principales: Byrjalsen, Anna, Stoltze, Ulrik, Mehrjouy, Mana, Frederiksen, Jane Hübertz, Bak, Mads, Birkedal, Ulf, Hasle, Henrik, Gerdes, Anne‐Marie, Schmiegelow, Kjeld, Wadt, Karin, Hansen, Thomas van Overeem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568377/
https://www.ncbi.nlm.nih.gov/pubmed/37430472
http://dx.doi.org/10.1002/mgg3.2232

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