Varaico: Literature-Extracted Genetic Variants

Gene:GNAL
Variant:p.Q300L
Back to variants list

GNAL

NM_182978.4:p.Q300L

Associated Papers

Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations.

Magistrelli L et al.

Movement Disorders Clinical Practice, 2024

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."