Varaico: Literature-Extracted Genetic Variants

Gene:PDE10A
Variant:p.F334L
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PDE10A

NM_001130690.3:p.F334L

Associated Papers

Familial choreoathetosis due to novel heterozygous mutation in PDE10A.

Narayanan DL et al.

American Journal of Medical Genetics. Part A, 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."