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Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathiesGenetics in Medicine, 2019, 21 (3), pp.553-563. ⟨10.1038/s41436-018-0089-2⟩
Article dans une revue
hal-01932802v1
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Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variantEuropean Journal of Medical Genetics, In press, ⟨10.1016/j.ejmg.2018.08.011⟩
Article dans une revue
hal-01952641v1
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