Associated Papers
A novel homozygous splicing variant in FRA10AC1: further delineation of the phenotype.
Abdel-Hamid MS et al.
Journal of Human Genetics, 2026
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM23_ESM.xlsx › Sheet1
A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation.
Alsaleh N et al.
Neurology. Genetics, 2022
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