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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADNP2

Variant:p.L823fs

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ADNP2

NM_014913.4:p.L823fs

hg38:chr18:80137880 CTT>N

Associated Papers

Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients.

D'Incal CP et al.

Scientific Reports, 2024

38926592 (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."