Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S493Fs
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LDLR

NM_000527.5:p.S493Fs

Associated Papers

Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey.

D'Erasmo L et al.

Orphanet Journal of Rare Diseases, 2021

34496902 (PubMed )
Supplement: 13023_2021_1999_MOESM1_ESM.docx

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

Romdhane L et al.

Orphanet Journal of Rare Diseases, 2012

[Familial hypercholesterolemia in Tunisia].

Jelassi A et al.

Pathologie-biologie, 2009

Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.

Jelassi A et al.

Atherosclerosis, 2009

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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."