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Whole Exome Sequencing Identifies Variable Expressivity of CLN6 Variants in Progressive Myoclonic Epilepsy Affected Families

Muhammad Ilyas, Faiza Tariq,Rafaqat Ishaq,Umme Habiba,Farah Bibi,Sadiq Noor Khan, Yasir Ali, Shehzad Haider,Stephanie Efthymiou,Uzma Abdullah,Ghazala Kaukab Raja,Pakeeza Arzoo Shaiq

EPILEPSY RESEARCH（2024）

Cited 0|Views17
Key words
CLN6,Neuronal ceroid lipofuscinosis,Progressive myoclonic epilepsies
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