Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing
Autor: | Felker, Stephanie A., Lawlor, James M.J., Hiatt, Susan M., Thompson, Michelle L., Latner, Donald R., Finnila, Candice R., Bowling, Kevin M., Bonnstetter, Zachary T., Bonini, Katherine E., Kelly, Nicole R., Kelley, Whitley V., Hurst, Anna C.E., Rashid, Salman, Kelly, Melissa A., Nakouzi, Ghunwa, Hendon, Laura G., Bebin, E. Martina, Kenny, Eimear E., Cooper, Gregory M. |
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Zdroj: | In Genetics in Medicine August 2023 25(8) |
Databáze: | ScienceDirect |
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