Varaico: Literature-Extracted Genetic Variants

Gene:SPTB
Variant:p.H1374R
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SPTB

NM_001355436.2:p.H1374R

Associated Papers

Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes.

Shome DK et al.

Annals of Hematology, 2023

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC3_ERR166307

Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA.

Maciag M et al.

British Journal of Haematology, 2009

Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis.

Maillet P et al.

Human Mutation, 1996

Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis.

Delaunay J et al.

Annales De Genetique, 1996

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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."