Varaico: Literature-Extracted Genetic Variants

Gene:FERMT1
Variant:p.I160T
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FERMT1

NM_017671.5:p.I160T

Associated Papers

Founder mutation c.676insC in three unrelated Kindler syndrome families belonging to a particular clan from Pakistan.

Shaiq PA et al.

The Journal of Dermatology, 2012

A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome.

Has C et al.

Journal of Dermatological Science, 2008

Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome.

Martignago BC et al.

The British Journal of Dermatology, 2007

Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.

Ashton GH et al.

The Journal of Investigative Dermatology, 2004

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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."