Varaico: Literature-Extracted Genetic Variants

Gene:KRT2
Variant:p.L483Q
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KRT2

NM_000423.3:p.L483Q

Associated Papers

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-s5.xls › VaribenchSelectedPure

A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens.

Irvine AD et al.

Clinical and Experimental Dermatology, 2000

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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."