Varaico: Literature-Extracted Genetic Variants

Gene:LORICRIN
Variant:p.G193insFs
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LORICRIN

NM_000427.3:p.G193insFs

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

Loricrin downregulation and epithelial-related disorders: a systematic review.

Catunda R et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2019

Two novel mutations in the LOR gene in three families with loricrin keratoderma.

Hotz A et al.

The British Journal of Dermatology, 2015

Collodion baby and loricrin keratoderma: a case report and mutation analysis.

Yeh JM et al.

Clinical and Experimental Dermatology, 2013

A novel c.545-546insG mutation in the loricrin gene correlates with a heterogeneous phenotype of loricrin keratoderma.

Song S et al.

The British Journal of Dermatology, 2008

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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."