Varaico: Literature-Extracted Genetic Variants

Gene:FMR1
Variant:p.K130R
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FMR1

NM_002024.6:p.K130R

Associated Papers

CRISPR activation of the ribosome-associated quality control factor ASCC3 ameliorates fragile X syndrome phenotypes in mice.

Geng J et al.

Science Translational Medicine, 2025

Sumoylation regulates FMRP-mediated dendritic spine elimination and maturation.

Khayachi A et al.

Nature Communications, 2018

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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."