Publications:

Shifting landscapes of human MTHFR missense-variant effects.

American Journal Of Human Genetics

Weile, Jochen J; Kishore, Nishka N; Sun, Song S; Maaieh, Ranim R; Verby, Marta M; Li, Roujia R; Fotiadou, Iosifina I; Kitaygorodsky, Julia J; Wu, Yingzhou Y; Holenstein, Alexander A; Bürer, Céline C; Blomgren, Linnea L; Yang, Shan S; Nussbaum, Robert R; Rozen, Rima R; Watkins, David D; Gebbia, Marinella M; Kozich, Viktor V; Garton, Michael M; Froese, D Sean DS; Roth, Frederick P FP

Publication Date: 2021-07-01

Variant appearance in text: MTHFR: 788A>C; His263Pro

PubMed Link: 34214447

Variant Present in the following documents:

• Main text
• main.pdf
• mmc6.pdf

View BVdb publication page

Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma.

Nature Communications

Igartua, Catherine C; Myers, Rachel A RA; Mathias, Rasika A RA; Pino-Yanes, Maria M; Eng, Celeste C; Graves, Penelope E PE; Levin, Albert M AM; Del-Rio-Navarro, Blanca E BE; Jackson, Daniel J DJ; Livne, Oren E OE; Rafaels, Nicholas N; Edlund, Christopher K CK; Yang, James J JJ; Huntsman, Scott S; Salam, Muhammad T MT; Romieu, Isabelle I; Mourad, Raphael R; Gern, James E JE; Lemanske, Robert F RF; Wyss, Annah A; Hoppin, Jane A JA; Barnes, Kathleen C KC; Burchard, Esteban G EG; Gauderman, W James WJ; Martinez, Fernando D FD; Raby, Benjamin A BA; Weiss, Scott T ST; Williams, L Keoki LK; London, Stephanie J SJ; Gilliland, Frank D FD; Nicolae, Dan L DL; Ober, Carole C

Publication Date: 2015-01-16

Variant appearance in text: MTHFR: H263P; rs142612062

PubMed Link: 25591454

Variant Present in the following documents:

• ncomms6965-s1.pdf

View BVdb publication page