Varaico: Literature-Extracted Genetic Variants

Gene:REST
Variant:p.R817*
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REST

NM_005612.5:p.R817*

Associated Papers

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

Lodato V et al.

Clinical Genetics, 2026

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

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

Rahikkala E et al.

European Journal of Human Genetics : Ejhg, 2023

The cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss.

Nakano Y 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

Novel REST Truncation Mutations Causing Hereditary Gingival Fibromatosis.

Chen JT et al.

Journal of Dental Research, 2021

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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."