Varaico: Literature-Extracted Genetic Variants

Gene:FERMT1
Variant:p.R288*
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FERMT1

NM_017671.5:p.R288*

Associated Papers

Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.

Ota VK et al.

Clinical and Experimental Dermatology, 2025

Kindler syndrome with a novel mutation and gynaecological complication.

Tanigassalame P et al.

Clinical and Experimental Dermatology, 2024

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients.

Guerrero-Aspizua S et al.

Orphanet Journal of Rare Diseases, 2019

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

Yıldırım TT et al.

The Turkish Journal of Pediatrics, 2017

Kindler syndrome with severe mucosal involvement in childhood.

Krishna CV et al.

Clinical and Experimental Dermatology, 2014

Kindler syndrome: a focal adhesion genodermatosis.

Lai-Cheong JE et al.

The British Journal of Dermatology, 2009

Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.

Lai-Cheong JE et al.

The Journal of Investigative Dermatology, 2008

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

Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.

Has C et al.

The Journal of Investigative Dermatology, 2006

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

Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.

Siegel DH et al.

American Journal of Human Genetics, 2003

Genetic Diagnosis of Kindler Syndrome, a Rare form of Genodermatosis in a Newborn with Identification of a Nonsense Mutation, c. 328C > T, in the FERMT1 Gene in the Indian Population.

Srikumar A et al.

Indian Journal of Dermatology, 0

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