Varaico: Literature-Extracted Genetic Variants

Gene:REST
Variant:p.E498delFs
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REST

NM_005612.5:p.E498delFs

Associated Papers

Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome.

Lodato V et al.

Clinical Genetics, 2026

Pathogenic REST variant causing Jones syndrome and a review of the literature.

Rahikkala E et al.

European Journal of Human Genetics : Ejhg, 2023

New evidence of genetic heterogeneity causing hereditary gingival fibromatosis and ALK and CD36 as new candidate genes.

Machado RA et al.

Journal of Periodontology, 2023

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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."