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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT12

Variant:p.E395*

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KRT12

NM_000223.4:p.E395*

hg38:chr17:40863256 C>A

Associated Papers

The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.

Lima Cunha D et al.

Genes, 2019

31861090 (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."