Varaico: Literature-Extracted Genetic Variants

Gene:PDE10A
Variant:p.F300L
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PDE10A

NM_001130690.3:p.F300L

Associated Papers

Familial choreoathetosis due to novel heterozygous mutation in PDE10A.

Narayanan DL et al.

American Journal of Medical Genetics. Part A, 2018

A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions.

Miyatake S 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

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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."