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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GUCY2D

Variant:p.P566_I571del6

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GUCY2D

NM_000180.4:p.P566_I571del6

hg38:chr17:8009532 CCCAGGGGATCAGCACATA>C

Associated Papers

Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.

Skorczyk-Werner A et al.

Journal of Applied Genetics, 2023

36369640 (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."