Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.R520M
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LDLR

NM_000527.5:p.R520M

Associated Papers

Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

Ai M et al.

American Journal of Human Genetics, 2005

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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."