Varaico: Literature-Extracted Genetic Variants

Gene:FERMT1
Variant:p.Q332delFs
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FERMT1

NM_017671.5:p.Q332delFs

Associated Papers

Identification of a novel FERMT1 variant causing kindler syndrome and a review of the clinical and molecular genetic features in Chinese patients.

Zhang Q et al.

Frontiers in Pediatrics, 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

Homozygous Deletion Mutation of the FERMT1 Gene in a Chinese Patient with Kindler Syndrome.

Oh SJ et al.

Annals of Dermatology, 2016

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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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."