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: DICER1: P1836L; rs187288681

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Analyzing the Role of DICER1 Germline Variations in Papillary Thyroid Carcinoma.

European Thyroid Journal

Canberk, Sule S; Ferreira, Joana C JC; Pereira, Luísa L; Batısta, Rui R; Vieira, Andre F AF; Soares, Paula P; Sobrinho Simões, Manuel M; Máximo, Valdemar V

Publication Date: 2021-02

Variant appearance in text: DICER1: 5507C>T

PubMed Link: 33718253

Variant Present in the following documents:

• Main text

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The prevalence of germline DICER1 pathogenic variation in cancer populations.

Molecular Genetics & Genomic Medicine

Kim, Jung J; Schultz, Kris Ann P KAP; Hill, Dana Ashley DA; Stewart, Douglas R DR

Publication Date: 2019-03

Variant appearance in text: DICER1: Pro1836Leu

PubMed Link: 30672147

Variant Present in the following documents:

• Main text
• MGG3-7-na.pdf

View BVdb publication page