Publications:

Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.

Plos Genetics

Naj, Adam C AC; Beecham, Gary W GW; Martin, Eden R ER; Gallins, Paul J PJ; Powell, Eric H EH; Konidari, Ioanna I; Whitehead, Patrice L PL; Cai, Guiqing G; Haroutunian, Vahram V; Scott, William K WK; Vance, Jeffery M JM; Slifer, Michael A MA; Gwirtsman, Harry E HE; Gilbert, John R JR; Haines, Jonathan L JL; Buxbaum, Joseph D JD; Pericak-Vance, Margaret A MA

Publication Date: 2010-09-23

Variant appearance in text: rs12195069

PubMed Link: 20885792

Variant Present in the following documents:

• Main text
• pgen.1001130.pdf

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A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency.

Human Mutation

Parle-McDermott, Anne A; Pangilinan, Faith F; O'Brien, Kirsty K KK; Mills, James L JL; Magee, Alan M AM; Troendle, James J; Sutton, Marie M; Scott, John M JM; Kirke, Peadar N PN; Molloy, Anne M AM; Brody, Lawrence C LC

Publication Date: 2009-12

Variant appearance in text: rs12195069

PubMed Link: 19777576

Variant Present in the following documents:

• Main text

View BVdb publication page