Varaico: Literature-Extracted Genetic Variants

Gene:FERMT1
Variant:p.Q226*
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FERMT1

NM_017671.5:p.Q226*

Associated Papers

Kindler syndrome with a novel mutation and gynaecological complication.

Tanigassalame P et al.

Clinical and Experimental Dermatology, 2024

[Clinical Characteristics and Gene Mutations in 186 Cases of Kindler Syndrome].

Shan Y et al.

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae, 2022

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

A Novel Nonsense Mutation in Exon 5 of KIND1 Gene in an Iranian Family with Kindler Syndrome.

Heidari MM et al.

Archives of Iranian Medicine, 2016

Genetic disease & gene regulation.

Unknown Author

The Journal of Investigative Dermatology, 2015

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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."