Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.W165*
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LDLR

NM_000527.5:p.W165*

Associated Papers

[Research progression of LDLR mutations in Chinese Familial hypercholesterolemia].

Dai YF et al.

Yi Chuan = Hereditas, 2011

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

Whittall RA et al.

Annals of Clinical Biochemistry, 2010

Two novel mutations of the LDL receptor gene associated with familial hypercholesterolemia in a Chinese family.

Xie L et al.

Chinese Medical Journal, 2007

Gene therapy of familial hypercholesterolemia.

Cai H

Chinese Medical Journal, 1996

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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."