Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.V797fs
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LDLR

NM_000527.5:p.V797fs

Associated Papers

Effects of LDLR variants rs5928, rs750518671 and rs879254797 on protein structure and functional activity in HepG2 cells transfected with CRISPR/Cas9 constructs.

Mori AA et al.

Gene, 2024

The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group.

Gazzotti M et al.

Frontiers in Genetics, 2022

35795214 (PubMed )
Supplement: DataSheet1.docx
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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."