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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADNP

Variant:p.E760fs

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ADNP

NM_001282531.3:p.E760fs

hg38:chr20:50892434 T>TN

Associated Papers

Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders.

Neuens S et al.

European Journal of Medical Genetics, 2025

40592404 (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."