Varaico: Literature-Extracted Genetic Variants

Gene:SPTB
Variant:p.L2032P
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SPTB

NM_001355436.2:p.L2032P

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

Genetic mutation analysis of hereditary spherocytosis in Guangxi Zhuang Autonomous Region.

Chen X et al.

Journal of Hematopathology, 2023

[Genetic Analysis and Prenatal Diagnosis of a Family with Hereditary Spherocytosis Caused by a Novel Compound Heterozygous Mutation of SPTB Gene].

Qin YM et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2022

Study on Management of Blood Transfusion Therapy in Patients with Hereditary Spherocytosis.

Ma S et al.

Applied Bionics and Biomechanics, 2022

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 Case of Hereditary Spherocytosis Caused by a Novel Homozygous Mutation in the SPTB Gene Misdiagnosed as β-Thalassemia Intermedia Due to a KLF1 Gene Mutation.

Yang K et al.

Hemoglobin, 2019

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