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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPTX1

Variant:p.A342V

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NPTX1

NM_002522.4:p.A342V

hg38:chr17:80471784 G>A

Associated Papers

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

Komatsu K et al.

Scientific Reports, 2024

39433808 (PubMed )

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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."