Varaico: Literature-Extracted Genetic Variants

Gene:LRP2
Variant:p.R2875H
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LRP2

NM_004525.3:p.R2875H

Associated Papers

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.

Verheije R et al.

European Journal of Human Genetics : Ejhg, 2019

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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."