Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.A156V
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GP1BB

NM_000407.5:p.A156V

Associated Papers

Diagnostic approach to the patient with a suspected inherited platelet disorder: Who and how to test.

Perez Botero J et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

Novel Compound Heterozygous Mutations in Two Families With Bernard-Soulier Syndrome.

Minkov M et al.

Frontiers in Pediatrics, 2020

Inherited thrombocytopenias-recent advances in clinical and molecular aspects.

Balduini CL et al.

Platelets, 2017

Molecular basis of inherited thrombocytopenias.

Savoia A

Clinical Genetics, 2016

Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study.

Bragadottir G et al.

American Journal of Hematology, 2015

Spectrum of the mutations in Bernard-Soulier syndrome.

Savoia A et al.

Human Mutation, 2014

Lessons in platelet production from inherited thrombocytopenias.

Pecci A et al.

British Journal of Haematology, 2014

Novel genetic abnormalities in Bernard-Soulier syndrome in India.

Ali S et al.

Annals of Hematology, 2014

Inherited thrombocytopenias frequently diagnosed in adults.

Balduini CL et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

What we have learned from inherited platelet disorders.

Israels SJ et al.

Pediatric Blood & Cancer, 2013

Genetics of familial forms of thrombocytopenia.

Balduini CL et al.

Human Genetics, 2012

Inherited platelet disorders: a clinical approach to diagnosis and management.

Cox K et al.

Expert Review of Hematology, 2011

Congenital macrothrombocytopenias.

Kunishima S et al.

Blood Reviews, 2006

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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."