Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.R115L
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LDLR

NM_000527.5:p.R115L

Associated Papers

Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.

Qin M et al.

Human Genetics, 2008

Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.

Kondo H et al.

Investigative Ophthalmology & Visual Science, 2007

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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."