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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USH2A

Variant:p.K402insFs

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USH2A

NM_206933.4:p.K402insFs

hg38:chr1:216324289 T>TC

Associated Papers

PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families.

Costa A et al.

Calcified Tissue International, 2024

38043102 (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."