Varaico: Literature-Extracted Genetic Variants

Gene:REST
Variant:p.C415S
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REST

NM_005612.5:p.C415S

Associated Papers

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

Lodato V et al.

Clinical Genetics, 2026

The Diverse Genetic Landscape of Hearing Impairment in South African Families.

Bharadwaj T et al.

Clinical Genetics, 2025

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

A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family.

Manyisa N et al.

Genes, 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."