Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.R183H
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LDLR

NM_000527.5:p.R183H

Associated Papers

LDLR variant classification through activity-normalized prime editing screening.

Zhou PJ et al.

Biorxiv : the Preprint Server for Biology, 2025

41473288 (PubMed )
Supplement: media-1.xlsx › SuppTable1

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

Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.

Targovnik HM et al.

Molecular and Cellular Endocrinology, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."