Publications:

A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: ABCA4: 3050+1G>A

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.

Molecular Vision

Oishi, Maho M; Oishi, Akio A; Gotoh, Norimoto N; Ogino, Ken K; Higasa, Koichiro K; Iida, Kei K; Makiyama, Yukiko Y; Morooka, Satoshi S; Matsuda, Fumihiko F; Yoshimura, Nagahisa N

Publication Date: 2016

Variant appearance in text: ABCA4: 3050+1G>A

PubMed Link: 26957898

Variant Present in the following documents:

• Main text
• mv-v22-150.pdf

View BVdb publication page