Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD26
Variant:p.R43L
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ANKRD26

NM_014915.3:p.R43L

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

Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study.

Tesi B et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

40388595 (PubMed )
Supplement: ccr-24-4251_supplementary_table_3_suppst3.xlsx › Supplementary_table_3

Inducible pluripotent stem cell models to study bone marrow failure and MDS predisposition syndromes.

Sahoo SS et al.

Experimental Hematology, 2025

Inherited thrombocytopenia associated with a variant in the FLI1 binding site in the 5' UTR of ANKRD26.

Dunstan-Harrison C et al.

Clinical Genetics, 2024

Functional categorization of gene regulatory variants that cause Mendelian conditions.

Cheng YHH et al.

Human Genetics, 2024

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

Pang C et al.

Platelets, 2023

A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.

Bohn E et al.

Frontiers in Molecular Biosciences, 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

Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.

Gilad O et al.

Haematologica, 2022

35295078 (PubMed )
Supplement: 2021_280116_GILAD_SUPPL.pdf

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

Generation of the human induced pluripotent stem cell line (SHAMUi001-A) carrying the heterozygous c.-128G>T mutation in the 5'-UTR of the ANKRD26 gene.

Tan C et al.

Stem Cell Research, 2020

A Rare Big Chinese Family With Thrombocytopenia 2: A Case Report and Literature Review.

Tan C et al.

Frontiers in Genetics, 2020

Multiple Myeloma in a Patient with ANKRD26-Related Thrombocytopenia Successfully Treated with Combination Therapy and Autologous Stem Cell Transplant.

Husnain M et al.

Case Reports in Hematology, 2019

A novel ANKRD26 gene variant causing inherited thrombocytopenia in a family of Finnish origin: Another brick in the wall?

Averina M et al.

Thrombosis Research, 2017

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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."