Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1
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DOI: 10.1101/mcs.a006092
Abstract: De novo pathogenic variants in CHAMP1 (chromosome alignment maintaining phosphoprotein 1), which encodes kinetochore-microtubule associated protein on 13q34, cause a rare neurodevelopmental disorder. We enrolled 14 individuals with pathogenic variants in CHAMP1 that were documented… read more here.
Keywords: pathogenic variants; neurodevelopmental phenotypes; individuals pathogenic; variants champ1 ... See more keywords