Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.V240I
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FH

NM_000143.4:p.V240I

Associated Papers

Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.

Mollaki V et al.

Atherosclerosis, 2014

Evaluation of high-resolution melting analysis for screening the LDL receptor gene.

Laurie AD et al.

Clinical Biochemistry, 2009

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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."