Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G396Splc
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LDLR

NM_000527.5:p.G396Splc

Associated Papers

Mutational analysis of the LDLR gene in a cohort of Colombian families with familial hypercholesterolemia.

López G et al.

Atherosclerosis, 2018

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.

Chmara M et al.

Journal of Applied Genetics, 2010

Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.

Tamayo ML et al.

Genetic Counseling (geneva, Switzerland), 2008

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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."