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: KRAS: F141L; rs138669124

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: KRAS: F141L

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Journal Of Translational Medicine

Manca, Antonella A; Paliogiannis, Panagiotis P; Colombino, Maria M; Casula, Milena M; Lissia, Amelia A; Botti, Gerardo G; Caracò, Corrado C; Ascierto, Paolo A PA; Sini, Maria Cristina MC; Palomba, Grazia G; Pisano, Marina M; , ; , ; Doneddu, Valentina V; Cossu, Antonio A; Palmieri, Giuseppe G; ,

Publication Date: 2019-08-28

Variant appearance in text: rs138669124

PubMed Link: 31455347

Variant Present in the following documents:

• 12967_2019_2039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Computational Screening and Analysis of Lung Cancer Related Non-Synonymous Single Nucleotide Polymorphisms on the Human Kirsten Rat Sarcoma Gene.

Molecules (Basel, Switzerland)

Wang, Qiankun Q; Mehmood, Aamir A; Wang, Heng H; Xu, Qin Q; Xiong, Yi Y; Wei, Dong-Qing DQ

Publication Date: 2019-05-21

Variant appearance in text: KRAS: F141L; rs138669124

PubMed Link: 31117243

Variant Present in the following documents:

• Main text
• molecules-24-01951.pdf

View BVdb publication page

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Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One

Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS

Publication Date: 2018

Variant appearance in text: KRAS: F141L

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 1
• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 2

View BVdb publication page

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PIK3CA Mutations Contribute to Acquired Cetuximab Resistance in Patients with Metastatic Colorectal Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Xu, Jian-Ming JM; Wang, Yan Y; Wang, You-Liang YL; Wang, Yan Y; Liu, Tao T; Ni, Ming M; Li, Man-Sheng MS; Lin, Li L; Ge, Fei-Jiao FJ; Gong, Chun C; Gu, Jun-Yan JY; Jia, Ru R; Wang, He-Fei HF; Chen, Yu-Ling YL; Liu, Rong-Rui RR; Zhao, Chuan-Hua CH; Tan, Zhao-Li ZL; Jin, Yang Y; Zhu, Yun-Ping YP; Ogino, Shuji S; Qian, Zhi-Rong ZR

Publication Date: 2017-08-15

Variant appearance in text: N/A

PubMed Link: 28424201

Variant Present in the following documents:

View BVdb publication page

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Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One

Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M

Publication Date: 2015

Variant appearance in text: KRAS: 423T>A

PubMed Link: 26010451

Variant Present in the following documents:

• Main text
• pone.0127146.s013.xlsx, sheet 3
• pone.0127146.pdf
• pone.0127146.s014.xlsx, sheet 3

View BVdb publication page

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