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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Genes (Basel)
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI 2021
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8074154/
https://ncbi.nlm.nih.gov/pubmed/33921607
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12040593
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