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: GC: 911_912delCA

PubMed Link: 35699195

Variant Present in the following documents:

• JAH3-11-e025629.pdf

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Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.

Bmc Medical Genetics

Thoms, Sven S; Grønborg, Sabine S; Rabenau, Jana J; Ohlenbusch, Andreas A; Rosewich, Hendrik H; Gärtner, Jutta J

Publication Date: 2011-08-16

Variant appearance in text: GC: 911_912del

PubMed Link: 21846392

Variant Present in the following documents:

• Main text

View BVdb publication page