Varaico: Literature-Extracted Genetic Variants

Gene:FERMT1
Variant:p.R573Splc
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FERMT1

NM_017671.5:p.R573Splc

Associated Papers

A novel frameshift mutation in the FERMT1 gene in a Chinese patient with Kindler syndrome.

Meng L et al.

Experimental and Therapeutic Medicine, 2020

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

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.

Takeichi T et al.

The British Journal of Dermatology, 2015

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

Has C et al.

Human Mutation, 2011

Novel and recurrent FERMT1 gene mutations in Kindler syndrome.

Techanukul T et al.

Acta Dermato-venereologica, 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

C-terminally truncated kindlin-1 leads to abnormal adhesion and migration of keratinocytes.

Has C et al.

The British Journal of 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

Neonatal diagnosis of Kindler syndrome.

Fassihi H et al.

Journal of Dermatological Science, 2005

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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