Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.L456_D457insFs
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LDLR

NM_000527.5:p.L456_D457insFs

Associated Papers

Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?

Stevens CAT et al.

Journal of the American Heart Association, 2024

38879446 (PubMed )
Supplement: JAH3-13-e034434-s001.pdf

Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Sturm AC et al.

Jama Cardiology, 2021

34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf

Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.

Whittall RA et al.

Annals of Clinical Biochemistry, 2010

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