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Genotype and phenotype characteristics of west syndrome in 20 Vietnamese children: Two novel variants detected by next-generation sequencing |
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| Nguyen Minh Duc, Nguyen Thuy Minh Thu, Chi-Bao Bui, Giang Hoa, Nguyen Le Trung Hieu |
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NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination |
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| Ambreen Ijaz, Fatima Alfadhli, Azizah Alharbi, Yasir Naseem Khan, Yasser Khaled Alhawas, Jamil A. Hashmi, Abdul Wali, Sulman Basit |
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NEB
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