Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.P685delFs
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LDLR

NM_000527.5:p.P685delFs

Associated Papers

The panorama of familial hypercholesterolemia in Latin America: a systematic review.

Mehta R et al.

Journal of Lipid Research, 2016

Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.

Sánchez-Hernández RM et al.

Circulation. Cardiovascular Genetics, 2016

27784735 (PubMed )
Supplement: 001545_supplemental_material.pdf

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent.

Cefalù AB et al.

International Journal of Molecular Medicine, 2006

Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.

Bañares VG et al.

Journal of Clinical Lipidology, 0

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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."