Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.R2906*
Back to variants list

SACS

NM_014363.6:p.R2906*

Associated Papers

Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.

Wu G et al.

Translational Neurodegeneration, 2025

41152957 (PubMed )
Supplement: 40035_2025_516_MOESM3_ESM.xlsx › TableS2c_predicted_DM_URVs

The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.

Mahdieh N et al.

Human Genomics, 2024

Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra.

Ashrafi MR et al.

Cerebellum (london, England), 2023

[Mutations in SYNE-1 lead to a newly discovered form of autosomal recessive cerebellar ataxia].

Dupré N et al.

Medecine Sciences : M/s, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."