Publications:

OpenCustomDB: Integration of Unannotated Open Reading Frames and Genetic Variants to Generate More Comprehensive Customized Protein Databases.

Journal Of Proteome Research

Guilloy, Noé N; Brunet, Marie A MA; Leblanc, Sébastien S; Jacques, Jean-François JF; Hardy, Marie-Pierre MP; Ehx, Grégory G; Lanoix, Joël J; Thibault, Pierre P; Perreault, Claude C; Roucou, Xavier X

Publication Date: 2023-03-24

Variant appearance in text: VWF: Arg960Arg

PubMed Link: 36961377

Variant Present in the following documents:

• pr3c00054_si_002.xlsx, sheet 2

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: VWF: R960R

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2

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Common VWF sequence variants associated with higher VWF and FVIII are less frequent in subjects diagnosed with type 1 VWD.

Research And Practice In Thrombosis And Haemostasis

Flood, Veronica H VH; Johnsen, Jill M JM; Kochelek, Caroline C; Slobodianuk, Tricia L TL; Christopherson, Pamela A PA; Haberichter, Sandra L SL; Udani, Rupa R; Bellissimo, Daniel B DB; Friedman, Kenneth D KD; Montgomery, Robert R RR

Publication Date: 2018-04

Variant appearance in text: VWF: Arg960Arg

PubMed Link: 30046743

Variant Present in the following documents:

• Main text

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