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: LONP1: Q389P; rs756614133

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Elucidating the genomic architecture of Asian EGFR-mutant lung adenocarcinoma through multi-region exome sequencing.

Nature Communications

Nahar, Rahul R; Zhai, Weiwei W; Zhang, Tong T; Takano, Angela A; Khng, Alexis J AJ; Lee, Yin Yeng YY; Liu, Xingliang X; Lim, Chong Hee CH; Koh, Tina P T TPT; Aung, Zaw Win ZW; Lim, Tony Kiat Hon TKH; Veeravalli, Lavanya L; Yuan, Ju J; Teo, Audrey S M ASM; Chan, Cheryl X CX; Poh, Huay Mei HM; Chua, Ivan M L IML; Liew, Audrey Ann AA; Lau, Dawn Ping Xi DPX; Kwang, Xue Lin XL; Toh, Chee Keong CK; Lim, Wan-Teck WT; Lim, Bing B; Tam, Wai Leong WL; Tan, Eng-Huat EH; Hillmer, Axel M AM; Tan, Daniel S W DSW

Publication Date: 2018-01-15

Variant appearance in text: LONP1: Q389P

PubMed Link: 29335443

Variant Present in the following documents:

• 41467_2017_2584_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page