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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDE6B

Variant:p.S546_I547del0

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PDE6B

NM_000283.4:p.S546_I547del0

hg38:chr4:662152 TTCTCCA>T

Associated Papers

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.

Kim MS et al.

Journal of Korean Medical Science, 2019

31144483 (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."