Publications:

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: CYBB: S475N

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease.

Mucosal Immunology

Schwerd, T T; Bryant, R V RV; Pandey, S S; Capitani, M M; Meran, L L; Cazier, J-B JB; Jung, J J; Mondal, K K; Parkes, M M; Mathew, C G CG; Fiedler, K K; McCarthy, D J DJ; , ; , ; , ; , ; Sullivan, P B PB; Rodrigues, A A; Travis, S P L SPL; Moore, C C; Sambrook, J J; Ouwehand, W H WH; Roberts, D J DJ; Danesh, J J; , ; Russell, R K RK; Wilson, D C DC; Kelsen, J R JR; Cornall, R R; Denson, L A LA; Kugathasan, S S; Knaus, U G UG; Serra, E G EG; Anderson, C A CA; Duerr, R H RH; McGovern, D Pb DP; Cho, J J; Powrie, F F; Li, V Sw VS; Muise, A M AM; Uhlig, H H HH

Publication Date: 2018-03

Variant appearance in text: CGD: 1424G>A

PubMed Link: 29091079

Variant Present in the following documents:

• NIHMS895460-supplement-supplement_1.pdf

View BVdb publication page