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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DLG4

Variant:p.E23*

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DLG4

NM_001321075.3:p.E23*

hg38:chr17:7208203 C>A

Associated Papers

Improvement of variant reclassification in genetic neurodevelopmental conditions.

Kowanda M et al.

Genetics in Medicine Open, 2024

39669614 (PubMed )

Supplement: mmc2.xlsx › Classification_criteria_applied

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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."