Publications:

Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.

Neurobiology Of Disease

Hsu, Simon S; Pimenova, Anna A AA; Hayes, Kimberly K; Villa, Juan A JA; Rosene, Matthew J MJ; Jere, Madhavi M; Goate, Alison M AM; Karch, Celeste M CM

Publication Date: 2020-06

Variant appearance in text: APP: H733P

PubMed Link: 32087291

Variant Present in the following documents:

• Main text
• NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 1
• nihms-1588025.pdf
• NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 2

View BVdb publication page

Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.

Aging And Disease

Bi, Christopher C; Bi, Stephanie S; Li, Bin B

Publication Date: 2019-04

Variant appearance in text: APP: H733P

PubMed Link: 31011484

Variant Present in the following documents:

• Main text
• ad-10-2-383.pdf

View BVdb publication page

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.

Neurobiology Of Aging

Guerreiro, Rita Joao RJ; Baquero, Miquel M; Blesa, Rafael R; Boada, Mercè M; Brás, Jose Miguel JM; Bullido, Maria J MJ; Calado, Ana A; Crook, Richard R; Ferreira, Carla C; Frank, Ana A; Gómez-Isla, Teresa T; Hernández, Isabel I; Lleó, Alberto A; Machado, Alvaro A; Martínez-Lage, Pablo P; Masdeu, José J; Molina-Porcel, Laura L; Molinuevo, José L JL; Pastor, Pau P; Pérez-Tur, Jordi J; Relvas, Rute R; Oliveira, Catarina Resende CR; Ribeiro, Maria Helena MH; Rogaeva, Ekaterina E; Sa, Alfredo A; Samaranch, Lluís L; Sánchez-Valle, Raquel R; Santana, Isabel I; Tàrraga, Lluís L; Valdivieso, Fernando F; Singleton, Andrew A; Hardy, John J; Clarimón, Jordi J

Publication Date: 2010-05

Variant appearance in text: APP: 2198A>C; H733P

PubMed Link: 18667258

Variant Present in the following documents:

• Main text

View BVdb publication page