Varaico: Literature-Extracted Genetic Variants

Gene:ANK1
Variant:p.E1669*
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ANK1

NM_000037.4:p.E1669*

Associated Papers

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

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

Luo Y et al.

Acta Haematologica, 2018

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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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."