Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population

Whole-exome DNA sequencing is a rich source of clinically useful information for specialists, patients, and their families, as well as elucidating the genetic basis of monogenic and complex diseases in clinical diagnosis. However, interpreting and reporting variants encompassing exome and genome seq...

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Detalles Bibliográficos
Autores principales: Gunsel, Aziz Suat, Ergoren, Mahmut Cerkez, Kemal, Hatice, Kafshboran, Haniyeh Rahbar, Cerit, Levent, Turgay, Ayla, Duygu, Hamza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606490/
https://www.ncbi.nlm.nih.gov/pubmed/37895316
http://dx.doi.org/10.3390/genes14101967

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606490/
https://www.ncbi.nlm.nih.gov/pubmed/37895316
http://dx.doi.org/10.3390/genes14101967

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