Varaico: Literature-Extracted Genetic Variants

Gene:FERMT1
Variant:p.N155delFs
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FERMT1

NM_017671.5:p.N155delFs

Associated Papers

Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.

Suzuki Y et al.

Genes, 2023

36833371 (PubMed )
Supplement: genes-14-00443-s001.zip › genes-2152850-supplementary.xlsx › Table_S6

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

Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoforms.

Kern JS et al.

The Journal of Pathology, 2007

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

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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