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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 10, 2023. (Total: 223917Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Mental Retardation and CACNA1A[original query]
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
Journal of the neurological sciences 2010 Apr 291 (1-2): 30-6.
Mantuano Elide, Romano Silvia, Veneziano Liana, Gellera Cinzia, Castellotti Barbara, Caimi Sara, Testa Daniela, Estienne Margherita, Zorzi Giovanna, Bugiani Marianna, Rajabally Yusuf A, Barcina Maria J Garcìa, Servidei Serena, Panico Aurora, Frontali Marina, Mariotti Cateri
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).
PloS one 2011 6 (3): e17811.
Figueroa Karla P, Waters Michael F, Garibyan Vartan, Bird Thomas D, Gomez Christopher M, Ranum Laura P W, Minassian Natali A, Papazian Diane M, Pulst Stefan
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