Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S195_P196insT
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LDLR

NM_000527.5:p.S195_P196insT

Associated Papers

Analysis of lipid metabolism and its impact on the risk of ischemic heart disease in patients with definite familial hypercholesterolemia.

Korneva V et al.

Atherosclerosis. Supplements, 2017

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

Komarova TY et al.

Bmc Medical Genetics, 2013

[New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk].

Komarova TY et al.

Genetika, 2013

[A case of familial hypercholesterolemia caused by a novel mutation p. FsS65:D129X of human low density lipoprotein receptor gene].

Korneva VA et al.

Kardiologiia, 2013

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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."