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: RUNX2: P12S; rs779487649

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: RUNX2: 34C>T

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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The genome of the stress-tolerant wild tomato species Solanum pennellii.

Nature Genetics

Bolger, Anthony A; Scossa, Federico F; Bolger, Marie E ME; Lanz, Christa C; Maumus, Florian F; Tohge, Takayuki T; Quesneville, Hadi H; Alseekh, Saleh S; Sørensen, Iben I; Lichtenstein, Gabriel G; Fich, Eric A EA; Conte, Mariana M; Keller, Heike H; Schneeberger, Korbinian K; Schwacke, Rainer R; Ofner, Itai I; Vrebalov, Julia J; Xu, Yimin Y; Osorio, Sonia S; Aflitos, Saulo Alves SA; Schijlen, Elio E; Jiménez-Goméz, José M JM; Ryngajllo, Malgorzata M; Kimura, Seisuke S; Kumar, Ravi R; Koenig, Daniel D; Headland, Lauren R LR; Maloof, Julin N JN; Sinha, Neelima N; van Ham, Roeland C H J RC; Lankhorst, René Klein RK; Mao, Linyong L; Vogel, Alexander A; Arsova, Borjana B; Panstruga, Ralph R; Fei, Zhangjun Z; Rose, Jocelyn K C JK; Zamir, Dani D; Carrari, Fernando F; Giovannoni, James J JJ; Weigel, Detlef D; Usadel, Björn B; Fernie, Alisdair R AR

Publication Date: 2014-09

Variant appearance in text: CCD: P12S

PubMed Link: 25064008

Variant Present in the following documents:

• 41588_2014_BFng3046_MOESM10_ESM.xlsx, sheet 13

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Sequence requirements for trafficking of the CRAM transmembrane protein to the flagellar pocket of African trypanosomes.

Molecular And Cellular Biology

Yang, H H; Russell, D G DG; Zheng, B B; Eiki, M M; Lee, M G MG

Publication Date: 2000-07

Variant appearance in text: CCD: p12S

PubMed Link: 10866671

Variant Present in the following documents:

• Main text

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