Varaico: Literature-Extracted Genetic Variants

Gene:FERMT1
Variant:p.W616_E617insFs
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FERMT1

NM_017671.5:p.W616_E617insFs

Associated Papers

A novel frameshift mutation in the FERMT1 gene in a Chinese patient with Kindler syndrome.

Meng L et al.

Experimental and Therapeutic Medicine, 2020

Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

Has C et al.

Human Mutation, 2011

A novel frameshift mutation in the KIND1 gene in Turkish siblings with Kindler syndrome.

Kaçar N et al.

The British Journal of Dermatology, 2008

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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."