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: LIPC: G239R; rs199787635

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: LIPC: G239R

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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Effects of the absence of apolipoprotein e on lipoproteins, neurocognitive function, and retinal function.

Jama Neurology

Mak, Angel C Y AC; Pullinger, Clive R CR; Tang, Ling Fung LF; Wong, Jinny S JS; Deo, Rahul C RC; Schwarz, Jean-Marc JM; Gugliucci, Alejandro A; Movsesyan, Irina I; Ishida, Brian Y BY; Chu, Catherine C; Poon, Annie A; Kim, Phillip P; Stock, Eveline O EO; Schaefer, Ernst J EJ; Asztalos, Bela F BF; Castellano, Joseph M JM; Wyss-Coray, Tony T; Duncan, Jacque L JL; Miller, Bruce L BL; Kane, John P JP; Kwok, Pui-Yan PY; Malloy, Mary J MJ

Publication Date: 2014-10

Variant appearance in text: rs199787635

PubMed Link: 25111166

Variant Present in the following documents:

• Main text

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