Varaico: Literature-Extracted Genetic Variants

Gene:LBR
Variant:p.N363insFs
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LBR

NM_002296.4:p.N363insFs

Associated Papers

The nuclear envelopathies and human diseases.

Chi YH et al.

Journal of Biomedical Science, 2009

HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency.

Wassif CA et al.

Human Molecular Genetics, 2007

Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly.

Shultz LD et al.

Human Molecular Genetics, 2003

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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."