Varaico: Literature-Extracted Genetic Variants

Gene:FERMT1
Variant:p.W393*
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FERMT1

NM_017671.5:p.W393*

Associated Papers

Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.

Ota VK et al.

Clinical and Experimental Dermatology, 2025

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients.

Guerrero-Aspizua S et al.

Orphanet Journal of Rare Diseases, 2019

Kindler syndrome in a patient with colitis and primary sclerosing cholangitis: coincidence or association?

Roda  et al.

Dermatology Online Journal, 2018

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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."