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
Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities.
Mangano GD et al.
European Journal of Medical Genetics, 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
Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer.
Kondelin J et al.
Embo Molecular Medicine, 2018
30108113 (PubMed )
Supplement: EMMM-10-e8552-s005.xlsx › Sheet1
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
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