Varaico: Literature-Extracted Genetic Variants

Gene:PDE10A
Variant:p.A116P
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PDE10A

NM_001130690.3:p.A116P

Associated Papers

Familial choreoathetosis due to novel heterozygous mutation in PDE10A.

Narayanan DL et al.

American Journal of Medical Genetics. Part A, 2018

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.

Diggle CP 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."