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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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  Data: ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping.
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  Data: <searchLink fieldCode="AU" term="%22Merico+D%22">Merico D</searchLink>; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada.<br /><searchLink fieldCode="AU" term="%22Spickett+C%22">Spickett C</searchLink>; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada.<br /><searchLink fieldCode="AU" term="%22O'Hara+M%22">O'Hara M</searchLink>; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada.<br /><searchLink fieldCode="AU" term="%22Kakaradov+B%22">Kakaradov B</searchLink>; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada.<br /><searchLink fieldCode="AU" term="%22Deshwar+AG%22">Deshwar AG</searchLink>; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada.<br /><searchLink fieldCode="AU" term="%22Fradkin+P%22">Fradkin P</searchLink>; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada.<br /><searchLink fieldCode="AU" term="%22Gandhi+S%22">Gandhi S</searchLink>; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada.<br /><searchLink fieldCode="AU" term="%22Gao+J%22">Gao J</searchLink>; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada.<br /><searchLink fieldCode="AU" term="%22Grant+S%22">Grant S</searchLink>; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada.<br /><searchLink fieldCode="AU" term="%22Kron+K%22">Kron K</searchLink>; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada.<br /><searchLink fieldCode="AU" term="%22Schmitges+FW%22">Schmitges FW</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Shalev+Z%22">Shalev Z</searchLink>; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada.<br /><searchLink fieldCode="AU" term="%22Sun+M%22">Sun M</searchLink>; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada.<br /><searchLink fieldCode="AU" term="%22Verby+M%22">Verby M</searchLink>; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada.<br /><searchLink fieldCode="AU" term="%22Cahill+M%22">Cahill M</searchLink>; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada.<br /><searchLink fieldCode="AU" term="%22Dowling+JJ%22">Dowling JJ</searchLink>; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada.<br /><searchLink fieldCode="AU" term="%22Fransson+J%22">Fransson J</searchLink>; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada.<br /><searchLink fieldCode="AU" term="%22Wienholds+E%22">Wienholds E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Frey+BJ%22">Frey BJ</searchLink>; Deep Genomics Inc., 661 University Avenue, MaRS Centre West Tower Suite 480, Toronto, ON M5G 1M1 Canada.
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  Data: <searchLink fieldCode="JN" term="%22101685193%22">NPJ genomic medicine</searchLink> [NPJ Genom Med] 2020 Apr 08; Vol. 5, pp. 16. <i>Date of Electronic Publication: </i>2020 Apr 08 (<i>Print Publication: </i>2020).
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