Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S152C
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LDLR

NM_000527.5:p.S152C

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

Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome.

Zanoni P et al.

Circulation Research, 2022

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