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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 encephalopathies

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https://hal-amu.archives-ouvertes.fr/hal-01932802
Contributor : Laurent Villard <>
Submitted on : Friday, November 23, 2018 - 1:10:28 PM
Last modification on : Sunday, December 13, 2020 - 2:24:03 PM

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Stephanie Valence, Emmanuelle Cochet, Christelle Rougeot, Catherine Garel, Sandra Chantot-Bastaraud, et al.. Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies. Genetics in Medicine, Nature Publishing Group, 2019, 21 (3), pp.553-563. ⟨10.1038/s41436-018-0089-2⟩. ⟨hal-01932802⟩

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