Varaico: Literature-Extracted Genetic Variants

Gene:STN1
Variant:p.R133*
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STN1

NM_024928.5:p.R133*

Associated Papers

A Novel Biallelic STN1 Mutation Is Associated With Adult-Onset Multisystemic Involvement: Broadening the Mutational Spectrum in Coats Plus Syndrome.

Ozen F et al.

Clinical Genetics, 2025

Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.

Niewisch MR et al.

Jama Network Open, 2024

39661387 (PubMed )
Supplement: jamanetwopen-e2450111-s001.pdf

Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.

Acharya T et al.

Molecular Genetics & Genomic Medicine, 2021

An Indian child with Coats plus syndrome due to mutations in STN1.

Passi GR et al.

American Journal of Medical Genetics. Part A, 2020

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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."