Varaico: Literature-Extracted Genetic Variants

Gene:SYNE1
Variant:p.R4420*
Back to variants list

SYNE1

NM_182961.4:p.R4420*

Associated Papers

Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.

Huang X et al.

Cerebellum (london, England), 2025

A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations.

Serag M et al.

Genes, 2023

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain.

Arias M et al.

Neurologia, 2022

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain.

Arias M et al.

Neurologia, 2022

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."