Publications:

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Jama Neurology

Fogel, Brent L BL; Lee, Hane H; Deignan, Joshua L JL; Strom, Samuel P SP; Kantarci, Sibel S; Wang, Xizhe X; Quintero-Rivera, Fabiola F; Vilain, Eric E; Grody, Wayne W WW; Perlman, Susan S; Geschwind, Daniel H DH; Nelson, Stanley F SF

Publication Date: 2014-10

Variant appearance in text: PSEN1: 1085A>C; Gln362Pro

PubMed Link: 25133958

Variant Present in the following documents:

• Main text

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