Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.L13R
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INS

NM_000207.3:p.L13R

Associated Papers

Computational Analysis of Deleterious nsSNPs in INS Gene Associated with Permanent Neonatal Diabetes Mellitus.

Ahmed EM et al.

Journal of Personalized Medicine, 2024

Loss of Preproinsulin Interaction with Signal Recognition Particle Activates Protein Quality Control, Decreasing mRNA Stability.

Miller SC et al.

Journal of Molecular Biology, 2024

A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease.

Ataie-Ashtiani S et al.

Cells, 2023

Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics.

Cook TW et al.

Biomolecules, 2023

INS-gene mutations: from genetics and beta cell biology to clinical disease.

Liu M et al.

Molecular Aspects of Medicine, 2015

Permanent neonatal diabetes due to a novel insulin signal peptide mutation.

Hussain S et al.

Pediatric Diabetes, 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."