Varaico: Literature-Extracted Genetic Variants

Gene:ANK1
Variant:p.Q1426*
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ANK1

NM_000037.4:p.Q1426*

Associated Papers

Genetic screening strategy for children with hereditary spherocytosis in Jiangxi Province of China.

Wu C et al.

Frontiers in Pediatrics, 2024

Identification of a novel ANK1 mutation in a Chinese family with hereditary spherocytosis: A case report.

Zhu X et al.

Experimental and Therapeutic Medicine, 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

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

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

Luo Y et al.

Acta Haematologica, 2018

Identification of a novel de novo ANK1 R1426* nonsense mutation in a Chinese family with hereditary spherocytosis by NGS.

Wang X et al.

Oncotarget, 2017

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