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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Genes (Basel)
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: MDPI 2021
Gaiak:
Sarrera elektronikoa: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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