Publications:

Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

Molecular Neurodegeneration

Khani, Marzieh M; Gibbons, Elizabeth E; Bras, Jose J; Guerreiro, Rita R

Publication Date: 2022-01-09

Variant appearance in text: AKAP9: 2113T>G

PubMed Link: 35000612

Variant Present in the following documents:

• Main text

View BVdb publication page

Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

Molecular Neurodegeneration

Khani, Marzieh M; Gibbons, Elizabeth E; Bras, Jose J; Guerreiro, Rita R

Publication Date: 2022-01-09

Variant appearance in text: AKAP9: 2113T>G

PubMed Link: 35000612

Variant Present in the following documents:

• Main text

View BVdb publication page

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

Human Mutation

Smith, Erica D ED; Radtke, Kelly K; Rossi, Mari M; Shinde, Deepali N DN; Darabi, Sourat S; El-Khechen, Dima D; Powis, Zöe Z; Helbig, Katherine K; Waller, Kendra K; Grange, Dorothy K DK; Tang, Sha S; Farwell Hagman, Kelly D KD

Publication Date: 2017-05

Variant appearance in text: AKAP9: 2113T>G; L705V

PubMed Link: 28106320

Variant Present in the following documents:

• HUMU-38-600-s001.pdf

View BVdb publication page