Associated Papers
CYP51A1 in health and disease: from sterol metabolism to regulated cell death.
Chen F et al.
Cell Death Discovery, 2025
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
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_MOESM10_ESM.xlsx › Sheet1
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
Patel N et al.
Human Genetics, 2017
Evaluation of Selected CYP51A1 Polymorphisms in View of Interactions with Substrate and Redox Partner.
Režen T et al.
Frontiers in Pharmacology, 2017
Expansion of genotype/phenotype correlation in an individual with compound heterozygous variants in CYP51A1 and congenital cataract.
Colonna MB et al.
Molecular Genetics and Metabolism, 0
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