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: POLG: L530F; rs1024469208

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: POLG: L530F

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

Candidate SNP Markers of Atherogenesis Significantly Shifting the Affinity of TATA-Binding Protein for Human Gene Promoters show stabilizing Natural Selection as a Sum of Neutral Drift Accelerating Atherogenesis and Directional Natural Selection Slowing It.

International Journal Of Molecular Sciences

Ponomarenko, Mikhail M; Rasskazov, Dmitry D; Chadaeva, Irina I; Sharypova, Ekaterina E; Drachkova, Irina I; Oshchepkov, Dmitry D; Ponomarenko, Petr P; Savinkova, Ludmila L; Oshchepkova, Evgeniya E; Nazarenko, Maria M; Kolchanov, Nikolay N

Publication Date: 2020-02-05

Variant appearance in text: rs1024469208

PubMed Link: 32033288

Variant Present in the following documents:

• Main text
• ijms-21-01045.pdf

View BVdb publication page