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Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies

Whole Exome Sequencing (WES) is a powerful approach for detecting sequence variations in the human genome. The aim of this study was to investigate the genetic defects in Jordanian patients with inherited retinal dystrophies (IRDs) using WES. WES was performed on proband patients’ DNA samples from 5...

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Detalles Bibliográficos
Autores principales: Azab, Bilal, Dardas, Zain, Aburizeg, Dunia, Al-Bdour, Muawyah, Abu-Ameerh, Mohammed, Saleh, Tareq, Barham, Raghda, Maswadi, Ranad, Ababneh, Nidaa A, Alsalem, Mohammad, Zouk, Hana, Amr, Sami, Awidi, Abdalla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8074154/
https://www.ncbi.nlm.nih.gov/pubmed/33921607
http://dx.doi.org/10.3390/genes12040593