Publications:

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Parapharyngeal hematoma following transesophageal echo in a patient with hemophilia A.

Clinical Case Reports

McKenna, Dominic D; Pampu, Teodora T; Korda, Marian M; Benson, Gary G

Publication Date: 2023-06

Variant appearance in text: FVIII: 6113A>G

PubMed Link: 37323258

Variant Present in the following documents:

• CCR3-11-e7558.pdf

View BVdb publication page

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The Alpha Variant (B.1.1.7) of SARS-CoV-2 Failed to Become Dominant in Mexico.

Microbiology Spectrum

Zárate, Selene S; Taboada, Blanca B; Muñoz-Medina, José Esteban JE; Iša, Pavel P; Sanchez-Flores, Alejandro A; Boukadida, Celia C; Herrera-Estrella, Alfredo A; Selem Mojica, Nelly N; Rosales-Rivera, Mauricio M; Gómez-Gil, Bruno B; Salas-Lais, Angel Gustavo AG; Santacruz-Tinoco, Clara Esperanza CE; Montoya-Fuentes, Héctor H; Alvarado-Yaah, Julio Elias JE; Molina-Salinas, Gloria María GM; Espinoza-Ayala, Gloria Elena GE; Enciso-Moreno, José Antonio JA; Gutiérrez-Ríos, Rosa María RM; Loza, Antonio A; Moreno-Contreras, Joaquín J; García-López, Rodrigo R; Rivera-Gutierrez, Xaira X; Comas-García, Andreu A; Wong-Chew, Rosa María RM; Jiménez-Corona, Maria-Eugenia ME; Del Angel, Rosa María RM; Vazquez-Perez, Joel Armando JA; Matías-Florentino, Margarita M; Pérez-García, Marissa M; Ávila-Ríos, Santiago S; Castelán-Sánchez, Hugo G HG; Delaye, Luis L; Martínez-Castilla, León P LP; Escalera-Zamudio, Marina M; López, Susana S; Arias, Carlos F CF

Publication Date: 2022-04-27

Variant appearance in text: F8: N2038S

PubMed Link: 35389245

Variant Present in the following documents:

• spectrum02240-21_supp_1_seq8.pdf

View BVdb publication page

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Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function.

American Journal Of Human Genetics

Lombardi, Silvia S; Leo, Gabriele G; Merlin, Simone S; Follenzi, Antonia A; McVey, John H JH; Maestri, Iva I; Bernardi, Francesco F; Pinotti, Mirko M; Balestra, Dario D

Publication Date: 2021-08-05

Variant appearance in text: FVIII: 6113A>G

PubMed Link: 34242570

Variant Present in the following documents:

• Main text

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: F8: 6113A>G; Asn2038Ser

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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: FVIII: N2038S

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Hemophilia A: different phenotypes may be explained by multiple and variable effects of the causative mutation in the F8 gene.

Haematologica

Castaman, Giancarlo G

Publication Date: 2018-02

Variant appearance in text: F8: N2038S

PubMed Link: 29386375

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity.

Haematologica

Donadon, Irving I; McVey, John H JH; Garagiola, Isabella I; Branchini, Alessio A; Mortarino, Mimosa M; Peyvandi, Flora F; Bernardi, Francesco F; Pinotti, Mirko M

Publication Date: 2018-02

Variant appearance in text: FVIII: N2038S

PubMed Link: 29170251

Variant Present in the following documents:

• Main text
• 1030344.pdf

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: N2038S

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: N2038S

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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