Varaico: Literature-Extracted Genetic Variants

Gene:SPTB
Variant:p.A2059P
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SPTB

NM_001355436.2:p.A2059P

Associated Papers

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

Liang G et al.

Molecular Genetics and Genomics : Mgg, 2024

Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis.

Al-Riyami AZ et al.

American Journal of Hematology, 2017

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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."