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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NARS2

Variant:p.V440L

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NARS2

NM_024678.6:p.V440L

hg38:chr11:78436786 C>A

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

40887432 (PubMed )

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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."