Varaico: Literature-Extracted Genetic Variants

Gene:GP6
Variant:p.S175N
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GP6

NM_016363.5:p.S175N

Associated Papers

Characterization of Novel Variants in P2YRY12, GP6 and TBXAS1 in Patients with Lifelong History of Bleeding.

Zamora-Cánovas A et al.

Biomolecules, 2025

41463295 (PubMed )
Supplement: biomolecules-15-01639-s001.zip › biomolecules-3972089-supplementary.pdf

Nucleotide variants and protein expression of TP53 in a Sri Lankan cohort of patients with head and neck cancer.

Manoharan V et al.

Molecular Medicine Reports, 2019

An adenine insertion in exon 6 of human GP6 generates a truncated protein associated with a bleeding disorder in four Chilean families.

Matus V et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

Advances in our understanding of the molecular basis of disorders of platelet function.

Nurden A et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder.

Hermans C et al.

Journal of Thrombosis and Haemostasis : Jth, 2009

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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."