Genomic insights into autosomal recessive epilepsy: novel pathogenic variants in ITPA and CLN5 identified in consanguineous families.
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| Title: | Genomic insights into autosomal recessive epilepsy: novel pathogenic variants in ITPA and CLN5 identified in consanguineous families. |
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| Authors: | Muhammad A; Molecular Biology & Genetics, Institute of Basic Medical Science, Khyber Medical University, Peshawar, Pakistan., Inayat F; Department of Biochemistry, Abdul Wali Khan University, Mardan, 23200, Pakistan., Sethi BA; Perinatal Medicine, Northwest General Hospital and Research center, Peshawar, Pakistan., Kashif M; Department of Child Health, Medical Teaching Institution, Khyber Teaching Hospital, Peshawar, Pakistan., Khan AU; Department of Neurology, Medical Teaching Institution, Lady Reading Hospital, Peshawar, Pakistan., Ahmad S; Molecular Biology & Genetics, Institute of Basic Medical Science, Khyber Medical University, Peshawar, Pakistan., Atlas A; Molecular Biology & Genetics, Institute of Basic Medical Science, Khyber Medical University, Peshawar, Pakistan., Rehman SU; Department of Biotechnology, University of Science and Technology Bannu, Bannu, Pakistan., Sarwar MT; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, 25000, Pakistan. tahirsarwar.ibms@kmu.edu.pk. |
| Source: | Molecular biology reports [Mol Biol Rep] 2025 Sep 26; Vol. 52 (1), pp. 952. Date of Electronic Publication: 2025 Sep 26. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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