Varaico: Literature-Extracted Genetic Variants

Gene:PDE10A
Variant:p.S300P
Back to variants list

PDE10A

NM_001385079.1:p.S300P

Associated Papers

PDE10A Mutation as an Emerging Cause of Childhood-Onset Hyperkinetic Movement Disorders: A Review of All Published Cases.

Kalampokini S et al.

Neuropediatrics, 2024

Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling.

Galosi S et al.

Frontiers in Neurology, 2022

PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology.

Niccolini F et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2018

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.

Mencacci NE et al.

American Journal of Human Genetics, 2016

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."