Varaico: Literature-Extracted Genetic Variants

Gene:DEAF1
Variant:p.C207Y
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DEAF1

NM_021008.4:p.C207Y

Associated Papers

Disrupted diencephalon development and neuropeptidergic pathways in zebrafish with autism-risk mutations.

Capps MES et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Major Causes of Conflicting Interpretations of Variant Pathogenicity in Rare Disease: A Systematic Analysis.

Lazareva TE et al.

Journal of Personalized Medicine, 2024

39202055 (PubMed )
Supplement: jpm-14-00864-s001.zip › jpm-3099412-supplementary › Supplementary_Table_S1.xlsx › SNP

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
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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."