Publications:

Monogenic Adult-Onset Inborn Errors of Immunity.

Frontiers In Immunology

Staels, Frederik F; Collignon, Tom T; Betrains, Albrecht A; Gerbaux, Margaux M; Willemsen, Mathijs M; Humblet-Baron, Stephanie S; Liston, Adrian A; Vanderschueren, Steven S; Schrijvers, Rik R

Publication Date: 2021

Variant appearance in text: CGD: Tyr30*

PubMed Link: 34867986

Variant Present in the following documents:

• Main text
• fimmu-12-753978.pdf

View BVdb publication page

Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Bmc Medical Genomics

Gal, Moran M; Khermesh, Khen K; Barak, Michal M; Lin, Min M; Lahat, Hadas H; Reznik Wolf, Haike H; Lin, Michael M; Pras, Elon E; Levanon, Erez Y EY

Publication Date: 2016-05-13

Variant appearance in text: CYBB: Y30X

PubMed Link: 27175728

Variant Present in the following documents:

• 12920_2016_184_MOESM1_ESM.xls, sheet 1

View BVdb publication page