Publications:

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.

The Journal Of Experimental Medicine

Li, Juan J; Lei, Wei-Te WT; Zhang, Peng P; Rapaport, Franck F; Seeleuthner, Yoann Y; Lyu, Bingnan B; Asano, Takaki T; Rosain, Jérémie J; Hammadi, Boualem B; Zhang, Yu Y; Pelham, Simon J SJ; Spaan, András N AN; Migaud, Mélanie M; Hum, David D; Bigio, Benedetta B; Chrabieh, Maya M; Béziat, Vivien V; Bustamante, Jacinta J; Zhang, Shen-Ying SY; Jouanguy, Emmanuelle E; Boisson-Dupuis, Stephanie S; El Baghdadi, Jamila J; Aimanianda, Vishukumar V; Thoma, Katharina K; Fliegauf, Manfred M; Grimbacher, Bodo B; Korganow, Anne-Sophie AS; Saunders, Carol C; Rao, V Koneti VK; Uzel, Gulbu G; Freeman, Alexandra F AF; Holland, Steven M SM; Su, Helen C HC; Cunningham-Rundles, Charlotte C; Fieschi, Claire C; Abel, Laurent L; Puel, Anne A; Cobat, Aurélie A; Casanova, Jean-Laurent JL; Zhang, Qian Q; Boisson, Bertrand B

Publication Date: 2021-11-01

Variant appearance in text: GC: 830dupA

PubMed Link: 34473196

Variant Present in the following documents:

• JEM_20210566_TableS1.xlsx, sheet 1

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Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan.

Bmc Genetics

Iskakova, Aisha N AN; Romanova, Aliya A AA; Aitkulova, Akbota M AM; Sikhayeva, Nurgul S NS; Zholdybayeva, Elena V EV; Ramanculov, Erlan M EM

Publication Date: 2016-01-19

Variant appearance in text: GC: 830_831insA

PubMed Link: 26785747

Variant Present in the following documents:

• Main text
• 12863_2016_Article_329.pdf

View BVdb publication page