Varaico: Literature-Extracted Genetic Variants

Gene:GP9
Variant:p.C135Y
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GP9

NM_000174.5:p.C135Y

Associated Papers

Bernard-Soulier syndrome caused by two novel heterozygous GP1BA gene mutations: a case report and literature review.

Zhang S et al.

Hematology (amsterdam, Netherlands), 2024

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

Molecular pathology of Bernard-Soulier syndrome in Indian patients.

Ali S et al.

Platelets, 2013

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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."