Article
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.
Molecular genetics and genomics : MGG - 1 Nov 2022
Khan Ayaz, Tian Shixiong, Tariq Muhammad, Khan Sheraz, Safeer Muhammad, Ullah Naimat, Akbar Nazia, Javed Iram, Asif Mahnoor, Ahmad Ilyas, Ullah Shahid, Satti Humayoon Shafique, Khan Raees, Naeem Muhammad, Ali Mahwish, Rendu John, Fauré Julien, Dieterich Klaus, Latypova Xenia, Baig Shahid Mahmood, Malik Naveed Altaf, Zhang Feng, Khan Tahir Naeem, Liu Chunyu
Abstract excerpt
Hereditary neurological disorders (HNDs) are a clinically and genetically heterogeneous group of disorders. These disorders arise from the impaired function of the central or peripheral nervous system due to aberrant electrical impulses. More than 600 various neurological disorders, exhibiting a wide spectrum of overlapping clinical presentations depending on the organ(s) involved, have been documented. Owing to...
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