Associated Papers
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Maroofian R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38054405 (PubMed )
Supplement: mmc3.xlsx › Sheet1
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1
Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.
Norsworthy PJ et al.
Bmc Medical Genetics, 2014
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
Marduel M et al.
Human Mutation, 2010
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