Varaico: Literature-Extracted Genetic Variants

Gene:SPTB
Variant:p.W1394*
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SPTB

NM_001355436.2:p.W1394*

Associated Papers

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

Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report.

Du Z et al.

Bmc Pediatrics, 2021

Mutational Characteristics of Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the Literature.

Wang D et al.

Frontiers in Pharmacology, 2021

34335240 (PubMed )
Supplement: Table1.DOCX

A clinical and experimental study of adult hereditary spherocytosis in the Chinese population.

Xue J et al.

The Kaohsiung Journal of Medical Sciences, 2020

Clinical utility of targeted gene enrichment and sequencing technique in the diagnosis of adult hereditary spherocytosis.

Xue J et al.

Annals of Translational Medicine, 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."