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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDE6B

Variant:p.E586G

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PDE6B

NM_000283.4:p.E586G

hg38:chr4:662543 A>G

Associated Papers

NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.

Perea-Romero I et al.

Human Genetics, 2021

34448047 (PubMed )

Supplement: 439_2021_2343_MOESM2_ESM.xlsx › Suppl_Table_S7

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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."