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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 5, 2023. (Total: 217663Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Spinocerebellar Ataxias and ITPR1[original query]
ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia.
Cerebellum & ataxias 2016 3 2.
Shadrina M I, Shulskaya M V, Klyushnikov S A, Nikopensius T, Nelis M, Kivistik P A, Komar A A, Limborska S A, Illarioshkin S N, Slominsky P
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,
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