Varaico: Literature-Extracted Genetic Variants

Gene:FERMT1
Variant:p.S114*
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FERMT1

NM_017671.5:p.S114*

Associated Papers

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

Has C et al.

Human Mutation, 2011

[Kindler syndrome. A new bullous dermatosis].

Has C

Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 2009

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

Kaçar N et al.

The British Journal of Dermatology, 2008

Five new homozygous mutations in the KIND1 gene in Kindler syndrome.

Lai-Cheong JE et al.

The Journal of Investigative Dermatology, 2007

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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."