Varaico: Literature-Extracted Genetic Variants

Gene:ANK1
Variant:p.R1252*
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ANK1

NM_000037.4:p.R1252*

Associated Papers

Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum.

More TA et al.

Molecular Genetics and Genomics : Mgg, 2023

Spherocytosis-Related L1340P Mutation in Ankyrin Affects Its Interactions with Spectrin.

Machnicka B et al.

Life (basel, Switzerland), 2023

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

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

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

Spectrum of Ankyrin Mutations in Hereditary Spherocytosis: A Case Report and Review of the Literature.

Luo Y et al.

Acta Haematologica, 2018

Ankyrin gene mutations in japanese patients with hereditary spherocytosis.

Nakanishi H et al.

International Journal of Hematology, 2001

[Etiology of hereditary spherocytosis].

Yawata Y

[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 1979

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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."