Varaico: Literature-Extracted Genetic Variants

Gene:SPTA1
Variant:p.E40K
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SPTA1

NM_003126.4:p.E40K

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

Molecular basis of red cell membrane disorders.

Delaunay J

Acta Haematologica, 2002

Hereditary spherocytosis: from clinical to molecular defects.

Iolascon A et al.

Haematologica, 1998

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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."