Varaico: Literature-Extracted Genetic Variants

Gene:FMR1
Variant:p.R534del1
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FMR1

NM_002024.6:p.R534del1

Associated Papers

Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report.

Hasan H et al.

Case Reports in Genetics, 2025

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