Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D112N
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LDLR

NM_000527.5:p.D112N

Associated Papers

Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.

Tosi I et al.

Atherosclerosis, 2007

Current management of severe homozygous hypercholesterolaemias.

Naoumova RP et al.

Current Opinion in Lipidology, 2004

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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."