Publications:

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Safe and Successful Surgical Outcome in Persons with Hemophilia A with and without Inhibitors Treated with Emicizumab: A Large, Single Center, Real-World Experience.

Journal Of Clinical Medicine

Castaman, Giancarlo G; Linari, Silvia S; Pieri, Lisa L; Carulli, Christian C; Prosperi, Paolo P; Tonelli, Paolo P; Demartis, Francesco F; Fjerza, Rajmonda R; Attanasio, Monica M; Coppo, Mirella M; Salvianti, Francesca F

Publication Date: 2023-03-16

Variant appearance in text: FVIII: Arg2323Cys

PubMed Link: 36983317

Variant Present in the following documents:

• jcm-12-02317.pdf

View BVdb publication page

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Molecular classification of blood and bleeding disorder genes.

Npj Genomic Medicine

Baz, Batoul B; Abouelhoda, Mohamed M; Owaidah, Tarek T; Dasouki, Majed M; Monies, Dorota D; Al Tassan, Nada N

Publication Date: 2021-07-16

Variant appearance in text: rs137852473

PubMed Link: 34272389

Variant Present in the following documents:

• 41525_2021_228_MOESM1_ESM.pdf

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: 6967C>T; Arg2323Cys

PubMed Link: 33245802

Variant Present in the following documents:

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: F8: R2323C

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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: R2323C

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: R2323C

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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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: R2323C

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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Factor VIII gene variants and inhibitor risk in African American hemophilia A patients.

Blood

Gunasekera, Devi D; Ettinger, Ruth A RA; Nakaya Fletcher, Shelley S; James, Eddie A EA; Liu, Maochang M; Barrett, John C JC; Withycombe, Janice J; Matthews, Dana C DC; Epstein, Melinda S MS; Hughes, Richard J RJ; Pratt, Kathleen P KP; ,

Publication Date: 2015-08-13

Variant appearance in text: FVIII: 6967C>T

PubMed Link: 25617427

Variant Present in the following documents:

• Main text

View BVdb publication page

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