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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDE4DIP

Variant:p.R20S

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PDE4DIP

NM_001395426.1:p.R20S

hg38:chr1:148863289 A>T

Associated Papers

The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.

Donato L et al.

Plos One, 2022

36490268 (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."