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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POU1F1

Variant:p.R246delFs

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POU1F1

NM_000306.4:p.R246delFs

hg38:chr3:87260031 TC>T

Associated Papers

Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.

Weisschuh N et al.

Investigative Ophthalmology & Visual Science, 2006

16936096 (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."