Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D224_K225delins
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LDLR

NM_000527.5:p.D224_K225delins

Associated Papers

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.

Vandrovcova J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013

Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.

Usifo E et al.

Annals of Human Genetics, 2012

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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."