Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP

In order to report clinically actionable incidental findings in genetic testing, the American College of Medical Genetics and Genomics (ACMG) recommended the evaluation of variants in 59 genes associated with highly penetrant mutations. However, there is a lack of epidemiological data on medically a...

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Detalles Bibliográficos
Autores principales: Elfatih, Amal, Da’as, Sahar I, Abdelrahman, Doua, Mbarek, Hamdi, Mohammed, Idris, Hasan, Waseem, Fakhro, Khalid A, Estivill, Xavier, Mifsud, Borbala
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9402234/
https://www.ncbi.nlm.nih.gov/pubmed/35348702
http://dx.doi.org/10.1093/hmg/ddac073

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9402234/
https://www.ncbi.nlm.nih.gov/pubmed/35348702
http://dx.doi.org/10.1093/hmg/ddac073

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