Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.W562fs
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LDLR

NM_000527.5:p.W562fs

Associated Papers

[Familial hypercholesterolemia due to a new mutation in the low density lipoprotein receptor gene].

Korneva VA et al.

Klinicheskaia Meditsina, 2014

Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Komarova TY et al.

Bmc Medical Genetics, 2013

[Clinical signs of homozygous familial hypercholesterolemia].

Malyshev PP et al.

Kardiologiia, 2002

[Current concepts of the pathogenesis of familial hypercholesterolemia].

Khandaker AKh et al.

Kardiologiia, 1988

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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."