LRRK2 c.2382G>A ;(p.L794=)

Variant ID: 12-40677817-G-A

NM_198578.3(LRRK2):c.2382G>A;(p.L794=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Rare copy number variants are an important cause of epileptic encephalopathies.

Annals Of Neurology
Mefford, Heather C HC; Yendle, Simone C SC; Hsu, Cynthia C; Cook, Joseph J; Geraghty, Eileen E; McMahon, Jacinta M JM; Eeg-Olofsson, Orvar O; Sadleir, Lynette G LG; Gill, Deepak D; Ben-Zeev, Bruria B; Lerman-Sagie, Tally T; Mackay, Mark M; Freeman, Jeremy L JL; Andermann, Eva E; Pelakanos, James T JT; Andrews, Ian I; Wallace, Geoffrey G; Eichler, Evan E EE; Berkovic, Samuel F SF; Scheffer, Ingrid E IE
Publication Date: 2011-12

Variant appearance in text: LRRK2: 2382G>A
PubMed Link: 22190369
Variant Present in the following documents:
  • Main text
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