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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDE6B

Variant:p.A349fs

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PDE6B

NM_000283.4:p.A349fs

hg38:chr4:655992 G>GN

Associated Papers

Next-generation genetic testing for retinitis pigmentosa.

Neveling K et al.

Human Mutation, 2012

22334370 (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."