Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.F202S
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LDLR

NM_000527.5:p.F202S

Associated Papers

Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.

Ryu J et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37732177 (PubMed )
Supplement: media-3.zip › Supplementary_Tables › TableS8_features_full_struc.xlsx › in

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

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

The genetic spectrum of familial hypercholesterolemia in the central south region of China.

Xiang R et al.

Atherosclerosis, 2017

Long-term atorvastatin-ezetimibe-probucol triple therapy for homozygous familial hypercholesterolaemia from early childhood.

Lin M et al.

Cardiology in the Young, 2016

Novel mutations of low-density lipoprotein receptor gene in China patients with familial hypercholesterolemia.

Fan LL et al.

Applied Biochemistry and Biotechnology, 2015

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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."