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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADNP

Variant:p.R419delFs

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ADNP

NM_001282531.3:p.R419delFs

hg38:chr20:50893458 CT>C

Associated Papers

A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome.

Harutyunyan L et al.

Brain Sciences, 2025

41594725 (PubMed )

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