Varaico: Literature-Extracted Genetic Variants

Gene:FERMT1
Variant:p.Q620_V621Splc
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FERMT1

NM_017671.5:p.Q620_V621Splc

Associated Papers

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

Has C et al.

Human Mutation, 2011

Novel and recurrent FERMT1 gene mutations in Kindler syndrome.

Techanukul T et al.

Acta Dermato-venereologica, 2011

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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