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A novel variant of CDK19 causes a severe neurodevelopmental disorder with infantile spasms

期刊: COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2021; 7 (2)

Infantile spasms are a potentially catastrophic form of epilepsy syndrome that are usually associated with substantial developmental delay and commonl......

Long-term survival of an ovarian cancer patient harboring a RAD51C missense mutation

期刊: COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2021; 7 (2)

Mutations in homologous recombination (HR) genes predispose to cancer but also sensitize to chemotherapeutics. Although therapy can initially be effec......

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