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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IFT172

Variant:p.P1572S

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IFT172

NM_015662.3:p.P1572S

hg38:chr2:27446301 G>A

Associated Papers

Highly efficient capture approach for the identification of diverse inherited retinal disorders.

Kao HJ et al.

Npj Genomic Medicine, 2024

38195571 (PubMed )

Supplement: 41525_2023_388_MOESM4_ESM.xlsx › Solved_cases

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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."