Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.Y719delFs
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ADNP

NM_001282531.3:p.Y719delFs

Associated Papers

MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods.

Maassen WTK et al.

Nar Genomics and Bioinformatics, 2025

40585303 (PubMed )
Supplement: lqaf087_supplemental_files.zip › supplementary_table_3.pdf

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.

Levchenko O et al.

International Journal of Molecular Sciences, 2022

35887114 (PubMed )
Supplement: ijms-23-07764-s001.zip › Supplementary_Matherial_S2.pdf

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.

Guo H et al.

Molecular Autism, 2018

30564305 (PubMed )
Supplement: 13229_2018_247_MOESM5_ESM.xlsx › LGD
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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."