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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CIB2

Variant:p.K175Q

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CIB2

NM_006383.4:p.K175Q

hg38:chr15:78105758 T>G

Associated Papers

Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.

Mihalich A et al.

Genes, 2024

38927702 (PubMed )

Supplement: genes-15-00766-s001.zip › Tab._S3.xlsx › Foglio1

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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."