Varaico: Literature-Extracted Genetic Variants

Gene:SPTB
Variant:p.W1150*
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SPTB

NM_001355436.2:p.W1150*

Associated Papers

Multigene Panel Testing Reveals Novel Variants in Hereditary Spherocytosis Patients in Türkiye

Doğru Ö et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2025

Coexistence of hereditary spherocytosis with SPTB P.Trp1150 gene variant and Gilbert syndrome: A case report and literature review.

Chi C et al.

Open Life Sciences, 2024

Literature review on genotype-phenotype correlation in patients with hereditary spherocytosis.

Yang L et al.

Clinical Genetics, 2022

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."