Varaico: Literature-Extracted Genetic Variants

Gene:REST
Variant:p.N958fs
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REST

NM_005612.5:p.N958fs

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

Clinics and genetic background of hereditary gingival fibromatosis.

Strzelec K et al.

Orphanet Journal of Rare Diseases, 2021

Novel REST Truncation Mutations Causing Hereditary Gingival Fibromatosis.

Chen JT et al.

Journal of Dental Research, 2021

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

Bayram Y et al.

American Journal of Human Genetics, 2017

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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."