Varaico: Literature-Extracted Genetic Variants

Gene:ANK1
Variant:p.R976*
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ANK1

NM_001142446.2:p.R976*

Associated Papers

Genotype clinical phenotype analysis of 35 cases of hereditary spherocytosis in children.

Duowen H et al.

Frontiers in Pediatrics, 2025

Identification of variants in 94 Chinese patients with hereditary spherocytosis by next-generation sequencing.

Wang WJ et al.

Clinical Genetics, 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

36816036 (PubMed )
Supplement: Table1.DOCX

Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis.

Xie F et al.

Molecular Genetics & Genomic Medicine, 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

Genotype-phenotype correlation in children with hereditary spherocytosis.

Tole S et al.

British Journal of Haematology, 2020

Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis.

Wang R et al.

Science China. Life Sciences, 2018

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

Luo Y et al.

Acta Haematologica, 2018

Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.

Muramatsu H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing.

Del Orbe Barreto R et al.

International Journal of Laboratory Hematology, 2016

Diagnosis of Hereditary Spherocytosis and Secondary Hemochromatosis in a Patient with Jaundice.

Gao Y et al.

Acta Haematologica, 0

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