Varaico: Literature-Extracted Genetic Variants

Gene:FERMT1
Variant:p.N129Splc
Back to variants list

FERMT1

NM_017671.5:p.N129Splc

Associated Papers

Aggressive periodontitis associated with Kindler syndrome in a large Kindler syndrome pedigree.

Yıldırım TT et al.

The Turkish Journal of Pediatrics, 2017

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

Kindler syndrome: a focal adhesion genodermatosis.

Lai-Cheong JE et al.

The British Journal of Dermatology, 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

Kindler syndrome.

Ashton GH

Clinical and Experimental Dermatology, 2004

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

Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.

Jobard F et al.

Human Molecular Genetics, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."