Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.Y188delFs
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LDLR

NM_000527.5:p.Y188delFs

Associated Papers

The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Jiang L et al.

Scientific Reports, 2015

26608663 (PubMed )
Supplement: srep17272-s1.doc

Array-based resequencing for mutations causing familial hypercholesterolemia.

Chiou KR et al.

Atherosclerosis, 2011

Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.

Chiou KR et al.

The American Journal of Cardiology, 2010

Detection of common sequence variations of familial hypercholesterolemia in Taiwan using DNA mass spectrometry.

Chiou KR 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."