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Genetic analysis by whole exome sequencing (WES) in a patient with retinal disorder: A Case Study

Objective: Retinal hemangioblastoma is part of the symptoms of von Hippel-Lindau (VHL) syndrome, which occurs due to mutations in the VHL gene located on chromosome 3. This gene encodes a protein that plays important roles such as regulating the expression of oxygen-related genes, cilia formation, e...

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Hlavní autoři: Ebrahim Rakhshani, mohammad Areesh, Farzaneh Salimi, Dor Mohammad Kordi-Tamandani
Médium: Artigo
Jazyk:Inglês
Vydáno: University of Sistan and Baluchestan 2025-06-01
Edice:Journal of Epigenetics
Témata:
wes
vhl
On-line přístup:https://jep.usb.ac.ir/article_9204_68182f9f927a0277bbe68b13eff36a31.pdf
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