Associated Papers
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P et al.
Clinical Genetics, 2024
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.
Pramparo T et al.
Orphanet Journal of Rare Diseases, 2023
36650582 (PubMed )
Supplement: 13023_2022_2578_MOESM1_ESM.xlsx › ClinVar_missense_annotated
Ethnic differences in the prevalence of polymorphisms in CYP7A1, CYP7B1 AND CYP27A1 enzymes involved in cholesterol metabolism.
Dias V et al.
Journal of Pharmacy & Bioallied Sciences, 2011
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