Varaico: Literature-Extracted Genetic Variants

Gene:FERMT1
Variant:p.R380Splc
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FERMT1

NM_017671.5:p.R380Splc

Associated Papers

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

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Tang R et al.

Advances in Bioinformatics, 2016

27313609 (PubMed )
Supplement: 5614058.f1.pdf

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

Caminsky N et al.

F1000research, 2014

25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10

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

Unusual molecular findings in Kindler syndrome.

Arita K et al.

The British Journal of Dermatology, 2007

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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."