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: HR: P309L; rs1451848175

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Genome sequence diversity of SARS-CoV-2 obtained from clinical samples in Uzbekistan.

Plos One

Abdullaev, Alisher A; Abdurakhimov, Abrorjon A; Mirakbarova, Zebinisa Z; Ibragimova, Shakhnoza S; Tsoy, Vladimir V; Nuriddinov, Sharofiddin S; Dalimova, Dilbar D; Turdikulova, Shahlo S; Abdurakhmonov, Ibrokhim I

Publication Date: 2022

Variant appearance in text: HR: P309L

PubMed Link: 35759503

Variant Present in the following documents:

• pone.0270314.pdf
• pone.0270314.s003.pdf

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Characterizing genomic variants and mutations in SARS-CoV-2 proteins from Indian isolates.

Gene Reports

Das, Jayanta Kumar JK; Sengupta, Antara A; Choudhury, Pabitra Pal PP; Roy, Swarup S

Publication Date: 2021-12

Variant appearance in text: HR: P309L

PubMed Link: 33623833

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page