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Whole-Exome sequencing identifies GYS2 biallelic variants in individuals with suspected epilepsy
by
Ilyas, Muhammad
,
Holzwarth, Dorothea
,
Ishaq, Rafaqat
,
Ali, Yasir
,
Habiba, Umme
,
Raja, Asad Mehmood
,
Saeed, Sadia
,
Abdullah, Uzma
,
Khan, Sadiq Noor
,
Ullah, Ata
,
Raja, Ghazala Kaukab
,
Baig, Shahid Mehmood
,
Fazeli, Walid
,
Kunz, Wolfram S.
,
Shaiq, Pakeeza Arzoo
Published in
Seizure (London, England)
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Seizure
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Biallelic Gys2 Mutations
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Blood Glucose
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Child
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Clinical Neurology
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Coma
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Compound Heterozygous
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Exome Sequencing
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Humans
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Hypoglycemia
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Life Sciences & Biomedicine
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Liver Glycogen
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Mutation - Genetics
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Seizure
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Splice-Site Mutation
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Whole-Exome Sequencing
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