Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E650delFs
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LDLR

NM_000527.5:p.E650delFs

Associated Papers

Generation of a non-integrated induced pluripotent stem cell line (SMBCi009-A) from urine-derived cells of a Chinese Familial hypercholesterolemia patient.

Qi Z et al.

Stem Cell Research, 2022

Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.

Wang H et al.

Journal of Atherosclerosis and Thrombosis, 2020

[Screening of LDLR gene mutations in nine patients with familial hypercholesterolemia].

Meng X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018

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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."