Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.L107P
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SIRT1

NM_012238.5:p.L107P

Associated Papers

Linking SIRT1 Variants to Metabolic and Cardiovascular Phenotypes: Insights from Population Genetics and In Silico Structural Analysis.

Grebenshchikov ES et al.

Cell Biochemistry and Biophysics, 2025

Effect of SIRT1 gene single-nucleotide polymorphisms on susceptibility to type 1 diabetes in a Han Chinese population.

Li J et al.

Journal of Endocrinological Investigation, 2024

Identification of the SIRT1 gene's most harmful non-synonymous SNPs and their effects on functional and structural features-an in silico analysis.

Thayyil Menambath D et al.

F1000research, 2023

SIRT1 single-nucleotide polymorphisms are associated with corticosteroid sensitivity in primary immune thrombocytopenia patients.

Wang S et al.

Annals of Hematology, 2021

Diabetes: Implications of a novel point mutation of SIRT1 in T1DM.

Chong ZZ

Nature Reviews. Endocrinology, 2013

Novel SIRT1 mutation linked to autoimmune diabetes in humans.

Hughes JW et al.

Cell Metabolism, 2013

Identification of a SIRT1 mutation in a family with type 1 diabetes.

Biason-Lauber A et al.

Cell Metabolism, 2013

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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."