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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDE6A

Variant:p.I332delFs

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PDE6A

NM_000440.3:p.I332delFs

hg38:chr5:149914945 GA>G

Associated Papers

Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations.

Sahin I et al.

Cureus, 2024

38465142 (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."