Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.Y113F
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GP1BB

NM_000407.5:p.Y113F

Associated Papers

Coexistence of Immune Thrombocytopenic Purpura and Bernard-Soulier Syndrome: A Rare Pediatric Case Report.

Alsharidah S et al.

International Medical Case Reports Journal, 2025

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS08_het

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3

A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.

Busonero F et al.

British Journal of Haematology, 2020

Congenital macrothrombocytopenia is a heterogeneous disorder in India.

Ali S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."