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: L448V; rs1413875392

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Molecular Testing in Patients With Castration-Resistant Prostate Cancer and Its Impact on Clinical Decision Making.

Jco Precision Oncology

Tao, Derrick L DL; Bailey, Shawna S; Beer, Tomasz M TM; Foss, Erik E; Beckett, Brooke B; Fung, Alice A; Foster, Bryan R BR; Guimaraes, Alexander A; Cetnar, Jeremy P JP; Graff, Julie N JN; Eilers, Kristine M KM; Small, Eric J EJ; Corless, Christopher L CL; Thomas, George V GV; Alumkal, Joshi J JJ

Publication Date: 2017

Variant appearance in text: TSC2: L448V

PubMed Link: 31650098

Variant Present in the following documents:

• Main text

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