Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.Y103C
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INS

NM_000207.3:p.Y103C

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

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

Ataie-Ashtiani S et al.

Cells, 2023

Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives.

Firdous P et al.

Frontiers in Endocrinology, 2018

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

Liu M et al.

Molecular Aspects of Medicine, 2015

Association of the tumor necrosis factor -308 A/G promoter polymorphism with Tourette syndrome.

Keszler G et al.

International Journal of Immunogenetics, 2014

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

Dasari S et al.

Journal of Proteome Research, 2014

24650283 (PubMed )
Supplement: pr4011475_si_001.pdf

[Insulin gene mutations].

Nishi M

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2012

Insulin gene mutations and diabetes.

Nishi M et al.

Journal of Diabetes Investigation, 2011

Proinsulin misfolding and diabetes: mutant INS gene-induced diabetes of youth.

Liu M et al.

Trends in Endocrinology and Metabolism: Tem, 2010

Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.

Støy J et al.

Reviews in Endocrine & Metabolic Disorders, 2010

Neonatal diabetes mellitus.

Aguilar-Bryan L et al.

Endocrine Reviews, 2008

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

Edghill EL et al.

Diabetes, 2008

Genetic polymorphisms and the fate of the transplanted organ.

Krüger B et al.

Transplantation Reviews (orlando, Fla.), 2008

Complex genetic predisposition in adult and juvenile rheumatoid arthritis.

Miterski B et al.

Bmc Genetics, 2004

[Insulin gene mutation].

Nishi M et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002

[Recombinant DNA in the study of diabetes mellitus].

Pankov IuA

Molekuliarnaia Biologiia, 0

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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."