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Cell Reports|April 16, 2025
KRIT1 heterozygous mutations are sufficient to induce a pathological phenotype in patient-derived iPSC models of cerebral cavernous malformationMaximiliano Arce, Iza Erzar, Fan Yang, et al.American Journal of Human Genetics|March 12, 2021
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsyAmbrin Fatima, Jan Hoeber, Jens Schuster, et al.Pageof 6