Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD1
Variant:p.T131M
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ENTPD1

NM_001776.6:p.T131M

Associated Papers

Long-Term Clinical Characterization of ENTPD1-Related Spastic Paraplegia: A Novel Variant and Comprehensive Literature Review.

Erkan DD et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025

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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."