Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD26
Variant:p.V42G
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ANKRD26

NM_014915.3:p.V42G

Associated Papers

Differential transcript level of ANKRD26 and clinical phenotype among the ANKRD26 variants in the Japanese registry for congenital thrombocytopenia.

Sakamoto A et al.

British Journal of Haematology, 2025

Analysis of clinical characteristics and treatment efficacy in two pediatric cases of ANKRD26-related thrombocytopenia.

Pang C et al.

Platelets, 2023

Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases.

Vyas H et al.

Platelets, 2022

ANKRD26-Related Thrombocytopenia and Predisposition to Myeloid Neoplasms.

Sullivan MJ et al.

Current Hematologic Malignancy Reports, 2022

Relation between mutations in the 5' UTR of ANKRD26 gene and inherited thrombocytopenia with predisposition to myeloid malignancies. An Egyptian study.

Zidan NI et al.

Platelets, 2021

Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.

Wahlster L et al.

The Journal of Experimental Medicine, 2021

Clinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26-related Thrombocytopenia and MYH9-related diseases.

Balduini A et al.

European Journal of Medical Genetics, 2018

5'UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia.

Marconi C et al.

Journal of Hematology & Oncology, 2017

Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.

Bluteau D et al.

The Journal of Clinical Investigation, 2014

Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia.

Necchi V et al.

Thrombosis and Haemostasis, 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."