Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G545G
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LDLR

NM_000527.5:p.G545G

Associated Papers

Molecular testing for familial hypercholesterolaemia-associated mutations in a UK-based cohort: development of an NGS-based method and comparison with multiplex polymerase chain reaction and oligonucleotide arrays.

Reiman A et al.

Annals of Clinical Biochemistry, 2016

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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."