Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2A
Variant:p.P31L
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TFAP2A

NM_001372066.1:p.P31L

Associated Papers

KCTD1 and Scalp-Ear-Nipple ('Finlay-Marks') syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains.

Wang D et al.

Ophthalmic Genetics, 2023

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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."