- Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. Journal of Medical Genetics. 2015 Academic Article GET IT
Paediatric and adult glioblastoma: Multiform (epi)genomic culprits emerge.
Nature Reviews Cancer.
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De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
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Mutations in SCARF2 are responsible for van Den Ende-Gupta syndrome.
American Journal of Human Genetics.
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