Varaico: Literature-Extracted Genetic Variants

Gene:LAMB3
Variant:p.K207Q
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LAMB3

NM_000228.3:p.K207Q

Associated Papers

Revertant mosaicism in genodermatoses.

Lim YH et al.

Cellular and Molecular Life Sciences : Cmls, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy.

Pasmooij AM et al.

Discovery Medicine, 2012

Revertant mosaicism in skin: natural gene therapy.

Lai-Cheong JE et al.

Trends in Molecular Medicine, 2011

Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3.

Pasmooij AM et al.

The Journal of Clinical Investigation, 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."