Varaico: Literature-Extracted Genetic Variants

Gene:ANK1
Variant:p.Q120*
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ANK1

NM_000037.4:p.Q120*

Associated Papers

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

Duowen H et al.

Frontiers in Pediatrics, 2025

A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.

Kager L et al.

Hemasphere, 2024

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

Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.

Kager L et al.

British Journal of Haematology, 2018

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