Varaico: Literature-Extracted Genetic Variants

Gene:FERMT1
Variant:p.Q226fs
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FERMT1

NM_017671.5:p.Q226fs

Associated Papers

Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.

Ota VK et al.

Clinical and Experimental Dermatology, 2025

Molecular profiling of a cohort with epidermolysis bullosa in India: a single centre experience.

Kumar A et al.

Clinical and Experimental Dermatology, 2025

Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing.

Baz DS et al.

Frontiers in Pediatrics, 2024

Characterization of Amino Acid Substitutions and Deletions in Kindlin-1 FERM Domain: Relevance for Precision Medicine.

Yilmaz P et al.

The Journal of Investigative Dermatology, 2022

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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."