Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: F2: E49D; rs1447320783

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Application of Machine Learning Classifier to Candida auris Drug Resistance Analysis.

Frontiers In Cellular And Infection Microbiology

Li, Dingchen D; Wang, Yaru Y; Hu, Wenjuan W; Chen, Fangyan F; Zhao, Jingya J; Chen, Xia X; Han, Li L

Publication Date: 2021

Variant appearance in text: F2: E49D

PubMed Link: 34722336

Variant Present in the following documents:

• Main text
• fcimb-11-742062.pdf

View BVdb publication page

Three multi-allelic gene pairs are responsible for self-sterility in the ascidian Ciona intestinalis.

Scientific Reports

Sawada, Hitoshi H; Yamamoto, Kazunori K; Yamaguchi, Akira A; Yamada, Lixy L; Higuchi, Arata A; Nukaya, Haruhiko H; Fukuoka, Masashi M; Sakuma, Tetsushi T; Yamamoto, Takashi T; Sasakura, Yasunori Y; Shirae-Kurabayashi, Maki M

Publication Date: 2020-02-13

Variant appearance in text: F2: E49D

PubMed Link: 32054881

Variant Present in the following documents:

• Main text

View BVdb publication page