Associated Papers
Identification and validation of CARS1 p.E712V and NF1 p.Q2002X in sporadic Moyamoya disease across 30 trio pedigrees.
Wang Y et al.
Npj Genomic Medicine, 2026
41605952 (PubMed )
Supplement: 41525_2025_539_MOESM1_ESM.pdf
Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.
Abdel-Hamid MS et al.
Journal of Human Genetics, 2017
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