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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TFAP2A

Variant:p.V233_V236del0

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TFAP2A

NM_001372066.1:p.V233_V236del0

hg38:chr6:10404569 GCACTTCCGCCAC>G

Associated Papers

A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype.

Aliferis K et al.

Ophthalmic Genetics, 2011

21728810 (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."