Varaico: Literature-Extracted Genetic Variants

Gene:ANK1
Variant:p.R281*
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ANK1

NM_000037.4:p.R281*

Associated Papers

Clinical Characteristics and Gene Mutations of Hereditary Spherocytosis in 59 Chinese Children.

Li Y et al.

Molecular Genetics & Genomic Medicine, 2026

Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing.

Qin L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025

Clinical manifestations of 17 Chinese children with hereditary spherocytosis caused by novel mutations of the ANK1 gene and phenotypic analysis.

Kang M et al.

Frontiers in Genetics, 2023

36816036 (PubMed )
Supplement: Table1.DOCX

Literature review on genotype-phenotype correlation in patients with hereditary spherocytosis.

Yang L et al.

Clinical Genetics, 2022

Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis.

Yamamoto KS et al.

Human Genome Variation, 2022

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

35056738 (PubMed )
Supplement: molecules-27-00423-s001.zip › SupplementaryFileS4.xlsx › Sheet1

Severe hyperbilirubinemia in a neonate with hereditary spherocytosis due to a de novo ankyrin mutation: A case report.

Wang JF et al.

World Journal of Clinical Cases, 2021

Mutational Characteristics of Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the Literature.

Wang D et al.

Frontiers in Pharmacology, 2021

34335240 (PubMed )
Supplement: Table1.DOCX

The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients: Genotype-Phenotype Correlation in Hereditary Spherocytosis.

van Vuren A et al.

Hemasphere, 2019

Two novel ANK1 loss-of-function mutations in Chinese families with hereditary spherocytosis.

Hao L et al.

Journal of Cellular and Molecular Medicine, 2019

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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."