Varaico: Literature-Extracted Genetic Variants

Gene:LDLRAP1
Variant:p.K204fs
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LDLRAP1

NM_015627.3:p.K204fs

Associated Papers

Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia.

Alnouri F et al.

Atherosclerosis, 2018

The history of Autosomal Recessive Hypercholesterolemia (ARH). From clinical observations to gene identification.

Fellin R et al.

Gene, 2015

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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."