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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAX6

Variant:p.R38insFs

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PAX6

NM_001368894.2:p.R38insFs

hg38:chr11:31802730 G>GC

Associated Papers

Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia.

Kit V et al.

Jci Insight, 2021

34101622 (PubMed )

Supplement: jciinsight-6-148406-s192.xlsx › Frameshift_mutation

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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."