Varaico: Literature-Extracted Genetic Variants

Gene:RPS23
Variant:p.F120I
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RPS23

NM_001025.5:p.F120I

Associated Papers

A mutation in the ribosomal protein uS12 reveals novel functions of its universally conserved PNSA loop.

Datta M et al.

Molecular Microbiology, 2021

Ribosomal biogenesis as an emerging target of neurodevelopmental pathologies.

Hetman M et al.

Journal of Neurochemistry, 2019

A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.

Paolini NA et al.

American Journal of Human Genetics, 2017

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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."