Varaico: Literature-Extracted Genetic Variants

Gene:ANK1
Variant:p.L115P
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ANK1

NM_000037.4:p.L115P

Associated Papers

Density, heterogeneity and deformability of red cells as markers of clinical severity in hereditary spherocytosis.

Huisjes R et al.

Haematologica, 2020

The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients: Genotype-Phenotype Correlation in Hereditary Spherocytosis.

van Vuren A et al.

Hemasphere, 2019

Severe Ankyrin-R deficiency results in impaired surface retention and lysosomal degradation of RhAG in human erythroblasts.

Satchwell TJ et al.

Haematologica, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."