Associated Papers
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s003.xlsx › Secondary_Findings_P_LP_Variant
Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.
Alver M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30270359 (PubMed )
Supplement: 41436_2018_311_MOESM5_ESM.pdf
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
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