Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.K393Q
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LDLR

NM_000527.5:p.K393Q

Associated Papers

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

Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic.

Tichý L et al.

Physiological Research, 2017

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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."