Varaico: Literature-Extracted Genetic Variants

Gene:PNPT1
Variant:p.D135G
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PNPT1

NM_033109.5:p.D135G

Associated Papers

Feedforward miR-181d degradation modulates population variance of methyl-guanine methyl transferase and temozolomide resistance.

Singh G et al.

Cell Reports, 2025

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.

von Ameln S et al.

American Journal of Human Genetics, 2012

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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."