Varaico: Literature-Extracted Genetic Variants

Gene:SPTB
Variant:p.E1819*
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SPTB

NM_001355436.2:p.E1819*

Associated Papers

Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis.

Jeong HE et al.

Scientific Reports, 2025

Efficacy of cytochemical tests in gene analysis of hereditary spherocytosis: a case study of six patients with different disease subtypes.

Shibuya A et al.

Hematology (amsterdam, Netherlands), 2021

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S5-Hom-PTVs

Analysis of erythrocyte membrane proteins in patients with hereditary spherocytosis and other types of haemolytic anaemia.

Shibuya A et al.

Hematology (amsterdam, Netherlands), 2018

[Application of 2 electrophoresis techniques to the analysis of erythrocyte membrane proteins in hereditary spherocytosis].

Ferrándiz F et al.

Sangre, 1993

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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."