Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.N405T
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LDLR

NM_000527.5:p.N405T

Associated Papers

Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.

Du Z et al.

Iscience, 2022

36325061 (PubMed )
Supplement: mmc2.xlsx › Table_S1

The genetic spectrum of familial hypercholesterolemia in Pakistan.

Ahmed W et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013

Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients.

Ahmed W et al.

Molecular Biology Reports, 2012

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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."