Varaico: Literature-Extracted Genetic Variants

Gene:SPTB
Variant:p.Q2013*
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SPTB

NM_001355436.2:p.Q2013*

Associated Papers

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

Liang G et al.

Molecular Genetics and Genomics : Mgg, 2024

Literature review on genotype-phenotype correlation in patients with hereditary spherocytosis.

Yang L et al.

Clinical Genetics, 2022

Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia.

Colin E et al.

Haematologica, 2021

Genotype-phenotype correlation in children with hereditary spherocytosis.

Tole S et al.

British Journal of Haematology, 2020

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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."