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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNV2

Variant:p.E74_A78delins

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KCNV2

NM_133497.4:p.E74_A78delins

hg38:chr9:2717963 ACCAGCA>TCACCACCACCTT

Associated Papers

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ et al.

American Journal of Human Genetics, 2017

28041643 (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."