Associated Papers
A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome.
D'Incal CP et al.
European Journal of Human Genetics : Ejhg, 2025
Harnessing deep learning into hidden mutations of neurological disorders for therapeutic challenges.
Yang S et al.
Archives of Pharmacal Research, 2023
Function of FMRP Domains in Regulating Distinct Roles of Neuronal Protein Synthesis.
D'Souza MN et al.
Molecular Neurobiology, 2022
Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.
Tekendo-Ngongang C et al.
Genes, 2021
Rare FMR1 gene mutations causing fragile X syndrome: A review.
Sitzmann AF et al.
American Journal of Medical Genetics. Part A, 2018
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.
Quartier A et al.
European Journal of Human Genetics : Ejhg, 2017
In Silico Analysis of FMR1 Gene Missense SNPs.
Tekcan A
Cell Biochemistry and Biophysics, 2016
Point mutation frequency in the FMR1 gene as revealed by fragile X syndrome screening.
Handt M et al.
Molecular and Cellular Probes, 0
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