Varaico: Literature-Extracted Genetic Variants

Gene:SPTB
Variant:p.W2024R
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SPTB

NM_001355436.2:p.W2024R

Associated Papers

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis.

Hartzell C et al.

Prenatal Diagnosis, 2025

Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype.

Liang G et al.

Molecular Genetics and Genomics : Mgg, 2024

Diagnosis and clinical management of red cell membrane disorders.

Kalfa TA

Hematology. American Society of Hematology. Education Program, 2021

Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.

Niss O et al.

Blood Cells, Molecules & Diseases, 2016

Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.

Park J et al.

Clinical Genetics, 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."