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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RDH12

Variant:p.S265_L266delFs

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RDH12

NM_152443.3:p.S265_L266delFs

hg38:chr14:67729322 ACCAG>A

Associated Papers

Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes.

Basdemirci M et al.

Molecular Syndromology, 2024

38841332 (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."