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: RET: I880V

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Somatic Mutation Profiles Revealed by Next Generation Sequencing (NGS) in 39 Chinese Hepatocellular Carcinoma Patients.

Frontiers In Molecular Biosciences

Ke, Lixin L; Shen, Jianming J; Feng, Jikun J; Chen, Jialin J; Shen, Shunli S; Li, Shaoqiang S; Kuang, Ming M; Liang, Lijian L; Lu, Cuncun C; Li, Dongming D; He, Qiang Q; Peng, Baogang B; Hua, Yunpeng Y

Publication Date: 2021

Variant appearance in text: RET: 2638A>G; I880V

PubMed Link: 35118119

Variant Present in the following documents:

• Table3.xlsx, sheet 1

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: RET: I880V

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page