Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.H5fs
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PAX6

NM_001368894.2:p.H5fs

Associated Papers

Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay.

Filatova AY et al.

European Journal of Human Genetics : Ejhg, 2019

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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."