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: TSC2: I1357N; rs878854103

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

PIM1 and CD79B Mutation Status Impacts the Outcome of Primary Diffuse Large B-Cell Lymphoma of the CNS.

Frontiers In Oncology

Zhou, Jihao J; Zuo, Min M; Li, Lifeng L; Li, Fang F; Ke, Peng P; Zhou, Yangying Y; Xu, Yaping Y; Gao, Xuan X; Guan, Yanfang Y; Xia, Xuefeng X; Yi, Xin X; Zhang, Xinyou X; Huang, Yuhua Y

Publication Date: 2022

Variant appearance in text: TSC2: 4070T>A; I1357N

PubMed Link: 35223507

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology

Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X

Publication Date: 2021

Variant appearance in text: TSC2: 4070T>A; I1357N

PubMed Link: 35087742

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology

Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z

Publication Date: 2021-08

Variant appearance in text: TSC2: 4070T>A; I1357N; rs878854103

PubMed Link: 33860439

Variant Present in the following documents:

• 12035_2021_2377_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page