OPN1MW c.229G>A ;(p.A77T)

Variant ID: X-153453375-G-A

NM_000513.2(OPN1MW):c.229G>A;(p.A77T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.

Archives Of Neurology
Yu, Chang-En CE; Bird, Thomas D TD; Bekris, Lynn M LM; Montine, Thomas J TJ; Leverenz, James B JB; Steinbart, Ellen E; Galloway, Nichole M NM; Feldman, Howard H; Woltjer, Randall R; Miller, Carol A CA; Wood, Elisabeth McCarty EM; Grossman, Murray M; McCluskey, Leo L; Clark, Christopher M CM; Neumann, Manuela M; Danek, Adrian A; Galasko, Douglas R DR; Arnold, Steven E SE; Chen-Plotkin, Alice A; Karydas, Anna A; Miller, Bruce L BL; Trojanowski, John Q JQ; Lee, Virginia M-Y VM; Schellenberg, Gerard D GD; Van Deerlin, Vivianna M VM
Publication Date: 2010-02

Variant appearance in text: CBD: 229G>A
PubMed Link: 20142524
Variant Present in the following documents:
  • Main text
View BVdb publication page