Varaico: Literature-Extracted Genetic Variants

Gene:LBR
Variant:p.E112fs
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LBR

NM_002296.4:p.E112fs

Associated Papers

Novel LBR pathogenic variants with loss of sterol reductase activity participate in the pathogenesis of skeletal dysplasia via dysregulating canonical Wnt pathway.

Chen Y et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025

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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."