Varaico: Literature-Extracted Genetic Variants

Gene:FERMT1
Variant:p.R110*
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FERMT1

NM_017671.5:p.R110*

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

Kindler syndrome with a novel mutation and gynaecological complication.

Tanigassalame P et al.

Clinical and Experimental Dermatology, 2024

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

Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases.

Montaudié H et al.

Orphanet Journal of Rare Diseases, 2016

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

Has C et al.

Human Mutation, 2011

Induction of phenotype modifying cytokines by FERMT1 mutations.

Heinemann A et al.

Human Mutation, 2011

Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer.

Has C et al.

Dermatology (basel, Switzerland), 2010

Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes.

Has C et al.

The American Journal of Pathology, 2009

[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

Sporadic Kindler syndrome with a novel mutation.

Almeida HL et al.

Anais Brasileiros De Dermatologia, 0

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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