Publications:

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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: SI: F160L; rs1320495759

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Monogenic diabetes clinic (MDC): 3-year experience.

Acta Diabetologica

Rapini, Novella N; Patera, Patrizia I PI; Schiaffini, Riccardo R; Ciampalini, Paolo P; Pampanini, Valentina V; Cristina, Matteoli M MM; Deodati, Annalisa A; Bracaglia, Giorgia G; Porzio, Ottavia O; Ruta, Rosario R; Novelli, Antonio A; Mucciolo, Mafalda M; Cianfarani, Stefano S; Barbetti, Fabrizio F

Publication Date: 2022-09-30

Variant appearance in text: SI: 480C>G

PubMed Link: 36178555

Variant Present in the following documents:

• 592_2022_Article_1972.pdf

View BVdb publication page

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Key Enzymes in Fatty Acid Synthesis Pathway for Bioactive Lipids Biosynthesis.

Frontiers In Nutrition

Zhuang, Xiao-Yan XY; Zhang, Yong-Hui YH; Xiao, An-Feng AF; Zhang, Ai-Hui AH; Fang, Bai-Shan BS

Publication Date: 2022

Variant appearance in text: SI: F160L

PubMed Link: 35284441

Variant Present in the following documents:

• fnut-09-851402.pdf

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: SI: F160L

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: SI: F160L

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Yeast hnRNP-related proteins contribute to the maintenance of telomeres.

Biochemical And Biophysical Research Communications

Lee-Soety, Julia Y JY; Jones, Jennifer J; MacGibeny, Margaret A MA; Remaly, Erin C EC; Daniels, Lynsey L; Ito, Andrea A; Jean, Jessica J; Radecki, Hannah H; Spencer, Shannon S

Publication Date: 2012-09-14

Variant appearance in text: SI: F160L

PubMed Link: 22902537

Variant Present in the following documents:

• Main text

View BVdb publication page

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