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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ENTPD1

Variant:p.W179*

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ENTPD1

NM_001776.6:p.W179*

hg38:chr10:95844598 G>A

Associated Papers

NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.

Malfatti E et al.

Clinical Genetics, 2025

40000157 (PubMed )

Supplement: CGE-108-318-s003.docx

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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."