Varaico: Literature-Extracted Genetic Variants

Gene:LOXL2
Variant:p.Q182insFs
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LOXL2

NM_002318.3:p.Q182insFs

Associated Papers

Loricrin keratoderma: description of a novel mutation, systematic review and meta-analysis between genotypic and phenotypic features.

Montero-Vilchez T et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2020

Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma.

Suzuki S et al.

Life Science Alliance, 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."