Publications:

Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.

Journal Of The American Heart Association

Whittaker, Ed E; Thrippleton, Sophie S; Chong, Liza Y W LYW; Collins, Victoria G VG; Ferguson, Amy C AC; Henshall, David E DE; Lancastle, Emily E; Wilkinson, Tim T; Wilson, Blair B; Wilson, Kirsty K; Sudlow, Cathie C; Wardlaw, Joanna J; Rannikmäe, Kristiina K

Publication Date: 2022-06-21

Variant appearance in text: ADA: 791G>C; W264S

PubMed Link: 35699195

Variant Present in the following documents:

• JAH3-11-e025629.pdf
• JAH3-11-e025629-s001.pdf

View BVdb publication page

Monogenic polyarteritis: the lesson of ADA2 deficiency.

Pediatric Rheumatology Online Journal

Caorsi, Roberta R; Penco, Federica F; Schena, Francesca F; Gattorno, Marco M

Publication Date: 2016-09-08

Variant appearance in text: ADA: 791G>C; W264S

PubMed Link: 27609179

Variant Present in the following documents:

• 12969_2016_Article_111.pdf

View BVdb publication page