Varaico: Literature-Extracted Genetic Variants

Gene:NEUROD1
Variant:p.L27F
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NEUROD1

NM_002500.5:p.L27F

Associated Papers

Congenital hyperinsulinism due to NEUROD1 gene mutation.

Kim I et al.

Annals of Pediatric Endocrinology & Metabolism, 2025

Identification of a compound heterozygous inactivating ABCC8 gene mutation responsible for young-onset diabetes with exome sequencing.

Matsutani N et al.

Journal of Diabetes Investigation, 2020

Association of novel variants in the hepatocyte nuclear factor 4A gene with maturity onset diabetes of the young and early onset type 2 diabetes.

Anuradha S et al.

Clinical Genetics, 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."