Varaico: Literature-Extracted Genetic Variants

Gene:REST
Variant:p.K890_E891delFs
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REST

NM_005612.5:p.K890_E891delFs

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

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

Case Report: Two clinical cases of Wilms tumor comorbid to gingival fibromatosis in young children with constitutionally mutated REST.

Salomatina AS et al.

Frontiers in Oncology, 2023

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