Varaico: Literature-Extracted Genetic Variants

Gene:EVA1C
Variant:p.P15A
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EVA1C

NM_058187.5:p.P15A

Associated Papers

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

Ataie-Ashtiani S et al.

Cells, 2023

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

Liu M et al.

Molecular Aspects of Medicine, 2015

The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis.

Vaxillaire M et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2012

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

Liu M et al.

Trends in Endocrinology and Metabolism: Tem, 2010

Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted.

Park SY et al.

Biochemical and Biophysical Research Communications, 2010

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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."