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ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping.

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Title: ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping.
Authors: Merico D; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada., Spickett C; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada., O'Hara M; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada., Kakaradov B; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada., Deshwar AG; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada., Fradkin P; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada., Gandhi S; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada., Gao J; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada., Grant S; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada., Kron K; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada., Schmitges FW; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada.; Present Address: WuXi AppTec, East Windsor, NJ USA., Shalev Z; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada., Sun M; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada., Verby M; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada., Cahill M; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada., Dowling JJ; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada., Fransson J; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada., Wienholds E; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada.; Present Address: Tesseraqt Optimization Inc., 222 College Street, Toronto, ON M5J 3J1 Canada., Frey BJ; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada.
Source: NPJ genomic medicine [NPJ Genom Med] 2020 Apr 08; Vol. 5, pp. 16. Date of Electronic Publication: 2020 Apr 08 (Print Publication: 2020).
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: eCollection Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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ISSN:2056-7944
DOI:10.1038/s41525-020-0123-6