Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.L823fs
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ADNP

NM_001282531.3:p.L823fs

Associated Papers

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

D'Incal CP et al.

Scientific Reports, 2024

Mutations in ADNP affect expression and subcellular localization of the protein.

Cappuyns E et al.

Cell Cycle (georgetown, Tex.), 2018

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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."