Varaico: Literature-Extracted Genetic Variants

Gene:GP1BA
Variant:p.L59R
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GP1BA

NM_000173.7:p.L59R

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

A novel mutation in GP1BA gene in a family with autosomal dominant Bernard Soulier syndrome variant: A case report.

Ma J et al.

Experimental and Therapeutic Medicine, 2021

Recent advances in inherited platelet disorders.

Pluthero FG et al.

Current Opinion in Hematology, 2019

A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome.

Trizuljak J et al.

Platelets, 2018

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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."