Associated Papers
Pacybara: accurate long-read sequencing for barcoded mutagenized allelic libraries.
Weile J et al.
Bioinformatics (oxford, England), 2024
38569896 (PubMed )
Supplement: btae182_supplementary_data.pdf
Pacybara: Accurate long-read sequencing for barcoded mutagenized allelic libraries.
Weile J et al.
Biorxiv : the Preprint Server for Biology, 2023
36865234 (PubMed )
Supplement: media-1.pdf
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Galicia-Garcia U et al.
Scientific Reports, 2020
32015373 (PubMed )
Supplement: 41598_2020_58734_MOESM1_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
Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.
Taylor A et al.
Clinical Genetics, 2010
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