Reclassifying variations of unknown significance in diseases affecting Saudi Arabia’s population reveal new associations

Introduction: Physicians face diagnostic dilemmas upon reports indicating disease variants of unknown significance (VUS). The most puzzling cases are patients with rare diseases, where finding another matched genotype and phenotype to associate their results is challenging. This study aims to prove...

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Detalles Bibliográficos
Autores principales: Al Eissa, Mariam M., Alotibi, Raniah S., Alhaddad, Bader, Aloraini, Taghrid, Samman, Manar S., AlAsiri, Abdulrahman, Abouelhoda, Mohamed, AlQahtani, Amerh S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10646566/
https://www.ncbi.nlm.nih.gov/pubmed/38028588
http://dx.doi.org/10.3389/fgene.2023.1250317

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10646566/
https://www.ncbi.nlm.nih.gov/pubmed/38028588
http://dx.doi.org/10.3389/fgene.2023.1250317

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