Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S59T
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LDLR

NM_000527.5:p.S59T

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-2.xlsx › SuppTable2

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

Scavenger receptor class B member 1 (SCARB1) variants modulate hepatitis C virus replication cycle and viral load.

Westhaus S et al.

Journal of Hepatology, 2017

Temperature sensitivity of some mutants of the lutropin/choriogonadotropin receptor.

Jaquette J et al.

Endocrinology, 1997

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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."