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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:INVS

Variant:p.Q671_K672del2

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INVS

NM_014425.5:p.Q671_K672del2

hg38:chr9:100284545 CCAGAAG>C

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."