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A novel deep intronic variant strongly associates with Alkaptonuria.
Lai CY, Tsai IJ, Chiu PC, Ascher DB, Chien YH, Huang YH, Lin YL, Hwu WL, Lee NC. Lai CY, et al. Among authors: tsai ij. NPJ Genom Med. 2021 Oct 22;6(1):89. doi: 10.1038/s41525-021-00252-2. NPJ Genom Med. 2021. PMID: 34686677 Free PMC article.
79 results