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: FLT4: D1003N; rs1218205510

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.

Oncotarget

Oliveira, Duarte Mendes DM; Laudanna, Carmelo C; Migliozzi, Simona S; Zoppoli, Pietro P; Santamaria, Gianluca G; Grillone, Katia K; Elia, Laura L; Mignogna, Chiara C; Biamonte, Flavia F; Sacco, Rosario R; Corcione, Francesco F; Viglietto, Giuseppe G; Malanga, Donatella D; Rizzuto, Antonia A

Publication Date: 2018-05-08

Variant appearance in text: FLT4: D1003N

PubMed Link: 29844865

Variant Present in the following documents:

• oncotarget-09-23960-s003.xlsx, sheet 1

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Next-generation sequencing analysis of receptor-type tyrosine kinase genes in surgically resected colon cancer: identification of gain-of-function mutations in the RET proto-oncogene.

Journal Of Experimental & Clinical Cancer Research : Cr

Mendes Oliveira, Duarte D; Grillone, Katia K; Mignogna, Chiara C; De Falco, Valentina V; Laudanna, Carmelo C; Biamonte, Flavia F; Locane, Rosa R; Corcione, Francesco F; Fabozzi, Massimiliano M; Sacco, Rosario R; Viglietto, Giuseppe G; Malanga, Donatella D; Rizzuto, Antonia A

Publication Date: 2018-04-17

Variant appearance in text: FLT4: D1003N

PubMed Link: 29665843

Variant Present in the following documents:

• Main text
• 13046_2018_746_MOESM2_ESM.xlsx, sheet 1
• 13046_2018_Article_746.pdf

View BVdb publication page