Varaico: Literature-Extracted Genetic Variants

Gene:FERMT1
Variant:p.K152insFs
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FERMT1

NM_017671.5:p.K152insFs

Associated Papers

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

Revertant mosaicism in genodermatoses.

Lim YH et al.

Cellular and Molecular Life Sciences : Cmls, 2017

Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination.

Kiritsi D et al.

The Journal of Clinical Investigation, 2012

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

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

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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."