Varaico: Literature-Extracted Genetic Variants

Gene:SPTB
Variant:p.C960*
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SPTB

NM_001355436.2:p.C960*

Associated Papers

Understanding the genetic architecture and phenotypic landscape of SPTB gene variants causing hereditary spherocytosis in an Indian cohort.

More TA et al.

Human Genetics, 2025

Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis.

Wu C et al.

Orphanet Journal of Rare Diseases, 2024

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

Liang G et al.

Molecular Genetics and Genomics : Mgg, 2024

Genetic screening strategy for children with hereditary spherocytosis in Jiangxi Province of China.

Wu C et al.

Frontiers in Pediatrics, 2024

Preliminary Study on the Clinical and Genetic Characteristics of Hereditary Spherocytosis in 15 Chinese Children.

Wu C et al.

Frontiers in Genetics, 2021

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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."