Varaico: Literature-Extracted Genetic Variants

Gene:SPTA1
Variant:p.K1449N
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SPTA1

NM_003126.4:p.K1449N

Associated Papers

Exome-Based Trio Analysis for Diagnosis of the Cause of Congenital Severe Hemolytic Anemia in a Child.

Rieneck K et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2022

Facilitating EMA binding test performance using fluorescent beads combined with next-generation sequencing.

Glenthøj A et al.

Ejhaem, 2021

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

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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."