Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C667W
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LDLR

NM_000527.5:p.C667W

Associated Papers

[Lipoprotein apheresis : State of the art and case report of the longest HELP treatment worldwide].

Tünnemann-Tarr A et al.

Herz, 2022

Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Galicia-Garcia U et al.

Scientific Reports, 2020

32015373 (PubMed )
Supplement: 41598_2020_58734_MOESM1_ESM.pdf

Recently reported familial hypercholesterolemia-related mutations from cases in the Middle East and North Africa region.

Awan ZA et al.

Current Opinion in Lipidology, 2019

The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.

Fairoozy RH et al.

Scientific Reports, 2017

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