Varaico: Literature-Extracted Genetic Variants

Gene:FMR1
Variant:p.G538fs
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FMR1

NM_002024.6:p.G538fs

Associated Papers

Age-dependent impairment of dopamine D1 receptor signalling in mouse striatum by FMR1 variant P626L.

Fu J et al.

Brain Communications, 2025

Function of FMRP Domains in Regulating Distinct Roles of Neuronal Protein Synthesis.

D'Souza MN et al.

Molecular Neurobiology, 2022

Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP.

Suhl JA et al.

Journal of Experimental Neuroscience, 2015

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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."