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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 14, 2024. (Total: 232476Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Channelopathies and KCNC3[original query]
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Brain : a journal of neurology 2017 Jun 140 (6): 1579-1594.
Coutelier Marie, Coarelli Giulia, Monin Marie-Lorraine, Konop Juliette, Davoine Claire-Sophie, Tesson Christelle, Valter Rémi, Anheim Mathieu, Behin Anthony, Castelnovo Giovanni, Charles Perrine, David Albert, Ewenczyk Claire, Fradin Mélanie, Goizet Cyril, Hannequin Didier, Labauge Pierre, Riant Florence, Sarda Pierre, Sznajer Yves, Tison François, Ullmann Urielle, Van Maldergem Lionel, Mochel Fanny, Brice Alexis, Stevanin Giovanni, Durr Alexandra,
V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations.
Neurology. Genetics 2021 Feb 7 (1): e546.
Paucar Martin, Ågren Richard, Li Tianyi, Lissmats Simon, Bergendal Åsa, Weinberg Jan, Nilsson Daniel, Savichetva Irina, Sahlholm Kristoffer, Nilsson Johanna, Svenningsson P
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