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Whole-Exome sequencing identifies GYS2 biallelic variants in individuals with suspected epilepsy

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Year: 2023
Type: article
Study design: Case Report
Source: Seizure
DOI: 10.1016/j.seizure.2023.07.020
Authors: Muhammad Ilyas, Dorothea Holzwarth, Rafaqat Ishaq, Yasir Ali, Umme Habiba, Asad Mehmood Raja, Sadia Saeed, Uzma Abdullah, Sadiq Noor Khan, Ata Ullah, Ghazala Kaukab Raja, Shahid Mehmood Baig, Walid Fazeli, Wolfram S. Kunz, Pakeeza Arzoo Shaiq
Institutions: University of Bonn, Riphah International University, Pir Mehr Ali Shah Arid Agriculture University, Institute of Chemistry of the Slovak Academy of Sciences, Slovak Academy of Sciences, University of Oslo, University of Haripur, Hong Kong University of Science and Technology, Pakistan Science Foundation
Language: English

Topic: Glycogen Storage Diseases and Myoclonus
Subfield: Biochemistry
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: bronze
OpenAlex ID: W4385304575
FWCI: 0.314
Cites: 24
Cited by: 3
Related to: 10
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