Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD1
Variant:p.A217T
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ENTPD1

NM_001776.6:p.A217T

Associated Papers

Early onset disease, anarthria, areflexia, and dystonia can be the distinctive features of SPG64, a very rare form of hereditary spastic paraplegias.

Ölmez A et al.

American Journal of Medical Genetics. Part A, 2022

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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."