Varaico: Literature-Extracted Genetic Variants

Gene:ANK1
Variant:p.H277R
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ANK1

NM_000037.4:p.H277R

Associated Papers

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

[Clinical and genetic features of children with hereditary spherocytosis: an analysis of 4 cases].

Zhang YG et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019

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

Luo Y et al.

Acta Haematologica, 2018

Mutation of conserved histidines alters tertiary structure and nanomechanics of consensus ankyrin repeats.

Lee W et al.

The Journal of Biological Chemistry, 2012

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