Varaico: Literature-Extracted Genetic Variants

Gene:FERMT1
Variant:p.S137_K140del4
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FERMT1

NM_017671.5:p.S137_K140del4

Associated Papers

Kindler Syndrome Presenting as Colitis in an Infant.

Idkaidak S et al.

Cureus, 2023

New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome.

Fuchs-Telem D et al.

Clinical and Experimental Dermatology, 2014

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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."