Varaico: Literature-Extracted Genetic Variants

Gene:SPTB
Variant:p.Q1587*
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SPTB

NM_001355436.2:p.Q1587*

Associated Papers

Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing.

Qin L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025

A novel variant in the SPTB gene underlying hereditary spherocytosis and a literature review of previous variants.

Wang Y et al.

Bmc Medical Genomics, 2024

39135028 (PubMed )
Supplement: 12920_2024_1973_MOESM6_ESM.docx

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

Liang G et al.

Molecular Genetics and Genomics : Mgg, 2024

Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?

Häuser F et al.

International Journal of Molecular Sciences, 2023

Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing: First South Asian study.

Aggarwal A et al.

British Journal of Haematology, 2020

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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."