Varaico: Literature-Extracted Genetic Variants

Gene:LORICRIN
Variant:p.Q216fs
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LORICRIN

NM_000427.3:p.Q216fs

Associated Papers

A rare case of LORICRIN gene c.684dup mutation associated with Vohwinkel syndrome in a Turkish patient, in silico analysis and literature review.

Yavas C et al.

Molecular Biology Reports, 2025

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

Hotz A et al.

The British Journal of Dermatology, 2015

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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."