Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.Y50C
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INS

NM_000207.3:p.Y50C

Associated Papers

Permanent neonatal diabetes-causing insulin mutations have dominant negative effects on beta cell identity.

Zhang Y et al.

Molecular Metabolism, 2024

Permanent Neonatal diabetes-causing Insulin mutations have dominant negative effects on beta cell identity.

Zhang Y et al.

Biorxiv : the Preprint Server for Biology, 2023

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

Ataie-Ashtiani S et al.

Cells, 2023

Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.

Wyatt RC et al.

Diabetologia, 2022

35501400 (PubMed )
Supplement: 125_2022_5697_MOESM1_ESM.pdf

Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment.

Ortolani F et al.

Acta Diabetologica, 2016

Paternally inherited proinsulin mutations may result in earlier onset of monogenic diabetes mutation identity effect in monogenic diabetes.

Fendler W et al.

Diabetes Care, 2011

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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."