Varaico: Literature-Extracted Genetic Variants

Gene:SPTB
Variant:p.W640*
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SPTB

NM_001355436.2:p.W640*

Associated Papers

Nonsense Variant in the β-Spectrin Gene Causing Hereditary Spherocytosis Identified by Whole-Exome Sequencing in a Child.

Yang A et al.

Hemoglobin, 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

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

Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis.

Wang R et al.

Science China. Life Sciences, 2018

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