Publications:

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GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Journal Of Thrombosis And Haemostasis : Jth

Megy, Karyn K; Downes, Kate K; Morel-Kopp, Marie-Christine MC; Bastida, José M JM; Brooks, Shannon S; Bury, Loredana L; Leinoe, Eva E; Gomez, Keith K; Morgan, Neil V NV; Othman, Maha M; Ouwehand, Willem H WH; Perez Botero, Juliana J; Rivera, José J; Schulze, Harald H; Trégouët, David-Alexandre DA; Freson, Kathleen K

Publication Date: 2021-10

Variant appearance in text: F8: 901C>T; Arg301Cys

PubMed Link: 34355501

Variant Present in the following documents:

• JTH-19-2612-s004.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: 901C>T; Arg301Cys

PubMed Link: 33245802

Variant Present in the following documents:

View BVdb publication page

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Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology

Atik, Tahir T; Işık, Esra E; Onay, Hüseyin H; Akgün, Bilçağ B; Shamsali, Moharram M; Kavaklı, Kaan K; Evim, Melike M; Tüysüz, Gülen G; Özbek, Namık Yaşar NY; Şahin, Fahri F; Salcıoğlu, Zafer Z; Albayrak, Canan C; Oymak, Yeşim Y; Ünal, Ekrem E; Belen, Fatma Burcu FB; Yılmaz Keskin, Ebru E; Balkan, Can C; Baytan, Birol B; Küpesiz, Alphan A; Culha, Vildan V; Tahtakesen Güçer, Tuba Nur TN; Güneş, Adalet Meral AM; Özkınay, Ferda F

Publication Date: 2020-08-28

Variant appearance in text: F8: R301C

PubMed Link: 32026663

Variant Present in the following documents:

• TJH-37-145.pdf

View BVdb publication page

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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: R301C

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: 901C>T; Arg301Cys

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.

Clinical And Applied Thrombosis/Hemostasis : Official Journal Of The International Academy Of Clinical And Applied Thrombosis/Hemostasis

Guo, Zhiping Z; Yang, Linhua L; Qin, Xiuyu X; Liu, Xiue X; Zhang, Yaofang Y

Publication Date: 2018-01

Variant appearance in text: FVIII: 901C>T

PubMed Link: 28056528

Variant Present in the following documents:

• Main text

View BVdb publication page

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The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget

Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ

Publication Date: 2016-10-18

Variant appearance in text: F8: R301C

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s008.xlsx, sheet 1

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: R301C

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: R301C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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