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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TFAP2E

Variant:p.A8D

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TFAP2E

NM_178548.4:p.A8D

hg38:chr1:35573600 C>A

Associated Papers

TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies.

Kalanithy JC et al.

Journal of Medical Genetics, 2025

39715634 (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."