Publications:

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: F8: Y450N

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM5_ESM.xlsx, sheet 1

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: Y450N

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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Desmopressin in moderate hemophilia A patients: a treatment worth considering.

Haematologica

Loomans, Janneke I JI; Kruip, Marieke J H A MJHA; Carcao, Manuel M; Jackson, Shannon S; van Velzen, Alice S AS; Peters, Marjolein M; Santagostino, Elena E; Platokouki, Helen H; Beckers, Erik E; Voorberg, Jan J; van der Bom, Johanna G JG; Fijnvandraat, Karin K; ,

Publication Date: 2018-03

Variant appearance in text: FVIII: Tyr450Asn

PubMed Link: 29305412

Variant Present in the following documents:

• 1030550.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: Y450N

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: Y450N

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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Three novel F8 mutations in sporadic haemophilia A cases.

Springerplus

Hussain, Rashid R; Abid, Noman Bin NB; Hussain, Sajjad S; Shaukat, Zeeshan Z; Altaf, Mudassir M; Altaf, Sara S; Niazi, Gulzar G

Publication Date: 2012

Variant appearance in text: rs111033616

PubMed Link: 23961341

Variant Present in the following documents:

• Main text

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