Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G91delFs
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LDLR

NM_000527.5:p.G91delFs

Associated Papers

Repository of mutations from Oman: The entry point to a national mutation database.

Rajab A et al.

F1000research, 2015

First case report of familial hypercholesterolemia in an Omani family due to novel mutation in the low-density lipoprotein receptor gene.

Al-Hinai AT et al.

Angiology, 2013

Familial hypercholesterolemia mutations in the Middle Eastern and North African region: a need for a national registry.

Bamimore MA 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."