Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations

Non-syndromic cleft lip with/without cleft palate (nsCL/P) is a highly heritable facial disorder. To date, systematic investigations of the contribution of rare variants in non-coding regions to nsCL/P etiology are sparse. Here, we re-analyzed available whole-genome sequence (WGS) data from 211 Euro...

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Detalles Bibliográficos
Autores principales: Zieger, Hanna K., Weinhold, Leonie, Schmidt, Axel, Holtgrewe, Manuel, Juranek, Stefan A., Siewert, Anna, Scheer, Annika B., Thieme, Frederic, Mangold, Elisabeth, Ishorst, Nina, Brand, Fabian U., Welzenbach, Julia, Beule, Dieter, Paeschke, Katrin, Krawitz, Peter M., Ludwig, Kerstin U.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9795529/
https://www.ncbi.nlm.nih.gov/pubmed/36589413
http://dx.doi.org/10.1016/j.xhgg.2022.100166

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9795529/
https://www.ncbi.nlm.nih.gov/pubmed/36589413
http://dx.doi.org/10.1016/j.xhgg.2022.100166

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