Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.R46R
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INS

NM_000207.3:p.R46R

Associated Papers

Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria.

Baek R et al.

Nature Communications, 2024

Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy.

Fulgencio-Covián A et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2020

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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."