Varaico: Literature-Extracted Genetic Variants

Gene:NARS2
Variant:p.F216L
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NARS2

NM_024678.6:p.F216L

Associated Papers

Neonatal diabetes mellitus is a significant feature of COXPD-24 caused by recessive NARS2 variants.

Donis R et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2025

Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan.

Hassan SS et al.

Pediatric Diabetes, 2024

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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."