Publications:

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs111033613

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs111033613

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.

Life (Basel, Switzerland)

Gindele, Réka R; Kerényi, Adrienne A; Kállai, Judit J; Pfliegler, György G; Schlammadinger, Ágota Á; Szegedi, István I; Major, Tamás T; Szabó, Zsuzsanna Z; Bagoly, Zsuzsa Z; Kiss, Csongor C; Kappelmayer, János J; Bereczky, Zsuzsanna Z

Publication Date: 2021-03-05

Variant appearance in text: F8: 5122C>T

PubMed Link: 33807613

Variant Present in the following documents:

• life-11-00202-s001.pdf

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Immune cell profiling of the cerebrospinal fluid enables the characterization of the brain metastasis microenvironment.

Nature Communications

Rubio-Perez, Carlota C; Planas-Rigol, Ester E; Trincado, Juan L JL; Bonfill-Teixidor, Ester E; Arias, Alexandra A; Marchese, Domenica D; Moutinho, Catia C; Serna, Garazi G; Pedrosa, Leire L; Iurlaro, Raffaella R; Martínez-Ricarte, Francisco F; Escudero, Laura L; Cordero, Esteban E; Cicuendez, Marta M; Ruiz, Sara S; Parra, Genís G; Nuciforo, Paolo P; Gonzalez, Josep J; Pineda, Estela E; Sahuquillo, Juan J; Tabernero, Josep J; Heyn, Holger H; Seoane, Joan J

Publication Date: 2021-03-08

Variant appearance in text: F8: R1708C

PubMed Link: 33686071

Variant Present in the following documents:

• 41467_2021_21789_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia

Feng, Yin Y; Li, Qianqian Q; Shi, Panlai P; Liu, Ning N; Kong, Xiangdong X; Guo, Ruixia R

Publication Date: 2021-01

Variant appearance in text: F8: 5122C>T; Arg1708Cys

PubMed Link: 33245802

Variant Present in the following documents:

View BVdb publication page

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Pharmacodynamic monitoring of factor VIII replacement therapy in hemophilia A: Combining thrombin and plasmin generation.

Journal Of Thrombosis And Haemostasis : Jth

Valke, Lars L F G LLFG; Bukkems, Laura H LH; Barteling, Wideke W; Laros-van Gorkom, Britta A P BAP; Blijlevens, Nicole M A NMA; Mathôt, Ron A A RAA; van Heerde, Waander L WL; Schols, Saskia E M SEM

Publication Date: 2020-12

Variant appearance in text: FVIII: Arg1708Cys

PubMed Link: 32979031

Variant Present in the following documents:

• Main text
• JTH-18-3222.pdf

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Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports

Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X

Publication Date: 2019-07-02

Variant appearance in text: F8: R1708C

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: F8: 5122C>T; Arg1708Cys

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: F8: 5122C>T; Arg1708Cys

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HEMA: R1708C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: F8: R1708C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.

Plos One

Nair, Preethi S PS; Shetty, Shrimati D SD; Chandrakala, S S; Ghosh, Kanjaksha K

Publication Date: 2014

Variant appearance in text: FVIII: Arg1708Cys

PubMed Link: 24845853

Variant Present in the following documents:

• Main text
• pone.0097337.pdf

View BVdb publication page

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