Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D445N
Back to variants list

LDLR

NM_000527.5:p.D445N

Associated Papers

Cellular and functional evaluation of LDLR missense variants reported in hypercholesterolemic patients demonstrates their hypomorphic impacts on trafficking and LDL internalization.

Jawabri AA et al.

Frontiers in Cell and Developmental Biology, 2024

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."