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Genetic Polymorphisms in Cytochrome P450 Enzymes Involved in Vitamin D Metabolism and the Vitamin D Receptor: Their Clinical Relevance.
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Journal of Personalized Medicine, 2025
Phenotype Spectrum of TRPM3-Associated Disorders.
Jolitz L et al.
Annals of Neurology, 2025
39749750 (PubMed )
Supplement: ANA-97-561-s001.docx
Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.
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International Journal of Obesity (2005), 2021
Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.
Pronicka E et al.
Journal of Applied Genetics, 2011
Mutant alleles of the MRS2 gene of yeast nuclear DNA suppress mutations in the catalytic core of a mitochondrial group II intron.
Schmidt U et al.
Journal of Molecular Biology, 1998
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