Varaico: Literature-Extracted Genetic Variants

Gene:SYNE1
Variant:p.Q4047*
Back to variants list

SYNE1

NM_182961.4:p.Q4047*

Associated Papers

Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.

Huang X et al.

Cerebellum (london, England), 2025

Childhood-onset writer's cramp, with later ataxia: A clue to COQ8A-related disorders.

Stephen CD

Parkinsonism & Related Disorders, 2024

Focal dystonia in a case of SYNE1 spastic-ataxia: Expanding the phenotypic spectrum.

Holla VV et al.

Parkinsonism & Related Disorders, 2021

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."