Varaico: Literature-Extracted Genetic Variants

Gene:SPTB
Variant:p.G1408R
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SPTB

NM_001355436.2:p.G1408R

Associated Papers

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry.

Songdej D et al.

Annals of Hematology, 2024

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

Shome DK et al.

Annals of Hematology, 2023

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

Common host variation drives malaria parasite fitness in healthy human red cells.

Ebel ER et al.

Elife, 2021

34553687 (PubMed )
Supplement: elife-69808-fig5-data3.xlsx › Sheet1

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

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

Maciag M et al.

British Journal of Haematology, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
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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."