Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Microinjection quality control in zebrafish model for genetic manipulations
por: Abdelrahman, Doua, et al.
Publicado: (2021) -
Functional Characterization of the MYO6 Variant p.E60Q in Non-Syndromic Hearing Loss Patients
por: Alkowari, Moza, et al.
Publicado: (2022) -
The link between glycemic control measures and eye microvascular complications in a clinical cohort of type 2 diabetes with microRNA-223-3p signature
por: Da’as, Sahar I., et al.
Publicado: (2023) -
Transcriptome Profile Identifies Actin as an Essential Regulator of Cardiac Myosin Binding Protein C3 Hypertrophic Cardiomyopathy in a Zebrafish Model
por: Da’as, Sahar Isa, et al.
Publicado: (2022) -
Maturity‐onset diabetes of the young (MODY) due to PDX1 mutation in a sib‐pair diabetes family from Qatar
por: Haris, Basma, et al.
Publicado: (2021)