Varaico: Literature-Extracted Genetic Variants

Gene:SPTB
Variant:p.Q1863*
Back to variants list

SPTB

NM_001355436.2:p.Q1863*

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

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

Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report.

Xu C et al.

Experimental and Therapeutic Medicine, 2022

35949318 (PubMed )
Supplement: Supplementary_Data.pdf

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

[The characteristic of hereditary spherocytosis related gene mutation in 37 Chinese hereditary spherocytisis patients].

Peng GX et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."