Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.Q163fs
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LDLR

NM_000527.5:p.Q163fs

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

Cascade Screening for Familial Hypercholesterolemia: PCR Methods with Melting-Curve Genotyping for the Targeted Molecular Detection of Apolipoprotein B and LDL Receptor Gene Mutations to Identify Affected Relatives.

Pandey S et al.

The Journal of Applied Laboratory Medicine, 2016

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