Varaico: Literature-Extracted Genetic Variants

Gene:FERMT1
Variant:p.R297G
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FERMT1

NM_017671.5:p.R297G

Associated Papers

Characterization of Amino Acid Substitutions and Deletions in Kindlin-1 FERM Domain: Relevance for Precision Medicine.

Yilmaz P et al.

The Journal of Investigative Dermatology, 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

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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