Varaico: Literature-Extracted Genetic Variants

Gene:ANK1
Variant:p.P638S
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ANK1

NM_000037.4:p.P638S

Associated Papers

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

38434532 (PubMed )
Supplement: HEM3-8-e31-s001.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

Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing.

Qin L et al.

Journal of Human Genetics, 2020

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