Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.N632I
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LDLR

NM_000527.5:p.N632I

Associated Papers

Fenotipo de hipercolesterolemia familiar definitivo con estudio genético negativo en Argentina.

Corral P et al.

Archivos De Cardiologia De Mexico, 2020

Phenotype of definite familial hypercholesterolemia with negative genetic study in Argentina.

Corral P et al.

Archivos De Cardiologia De Mexico, 2020

Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia.

Ben-Omran T et al.

Advances in Therapy, 2019

Unusual genetic variants associated with hypercholesterolemia in Argentina.

Corral P et al.

Atherosclerosis, 2018

Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.

Bañares VG 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."