Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
A maternally inherited frameshift CDKL5 variant in a male with global developmental delay and late-onset generalized epilepsy.
Fraser H et al.
American Journal of Medical Genetics. Part A, 2019
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