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CELSR2 c.533C>T ;(p.A178V)
Variant ID: 1-109793234-C-T
NM_001408.2(
CELSR2
):c.533C>T;(p.A178V)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.
Tremor And Other Hyperkinetic Movements (New York, N.Y.)
Depienne, Christel C; Ciura, Sorana S; Trouillard, Oriane O; Bouteiller, Delphine D; Leitão, Elsa E; Nava, Caroline C; Keren, Boris B; Marie, Yannick Y; Guegan, Justine J; Forlani, Sylvie S; Brice, Alexis A; Anheim, Mathieu M; Agid, Yves Y; Krack, Paul P; Damier, Philippe P; Viallet, François F; Houeto, Jean-Luc JL; Durif, Franck F; Vidailhet, Marie M; Worbe, Yulia Y; Roze, Emmanuel E; Kabashi, Edor E; Hartmann, Andreas A
Publication Date: 2019
Variant appearance in text: CELSR2: 533C>T
PubMed Link:
31824749
Variant Present in the following documents:
Main text
View BVdb publication page