Varaico: Literature-Extracted Genetic Variants

Gene:FERMT1
Variant:p.Q226delFs
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FERMT1

NM_017671.5:p.Q226delFs

Associated Papers

Identification of a novel FERMT1 variant causing kindler syndrome and a review of the clinical and molecular genetic features in Chinese patients.

Zhang Q et al.

Frontiers in Pediatrics, 2024

Whole exome sequencing in a sample of Peruvian patients diagnosed with epidermolysis bullosa.

Zevallos-Morales A et al.

Dermatology Online Journal, 2022

A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases.

Chmel N et al.

The Journal of Investigative 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."