Publications:

Whole-exome sequencing study identifies rare variants and genes associated with intraocular pressure and glaucoma.

Nature Communications

Gao, Xiaoyi Raymond XR; Chiariglione, Marion M; Arch, Alexander J AJ

Publication Date: 2022-11-30

Variant appearance in text: MYOC: Gln175His

PubMed Link: 36450729

Variant Present in the following documents:

• 41467_2022_Article_35188.pdf

View BVdb publication page

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.

Plos Genetics

Tanigawa, Yosuke Y; Wainberg, Michael M; Karjalainen, Juha J; Kiiskinen, Tuomo T; Venkataraman, Guhan G; Lemmelä, Susanna S; Turunen, Joni A JA; Graham, Robert R RR; Havulinna, Aki S AS; Perola, Markus M; Palotie, Aarno A; , ; Daly, Mark J MJ; Rivas, Manuel A MA

Publication Date: 2020-05

Variant appearance in text: MYOC: Gln175His

PubMed Link: 32369491

Variant Present in the following documents:

• Main text
• pgen.1008682.s024.pdf
• pgen.1008682.pdf

View BVdb publication page