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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDE6A

Variant:p.E540_A541Splc

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PDE6A

NM_000440.3:p.E540_A541Splc

hg38:chr5:149895296 A>C

Associated Papers

Molecular genetics of inherited retinal degenerations in Icelandic patients.

Thorsteinsson DA et al.

Clinical Genetics, 2021

33851411 (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."