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Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
| Publication available at: | https://www.medrxiv.org/content/medrxiv/early/2023/04/03/2023.04.03.23287612.full.pdf |
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| Title: | Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions. |
| Authors: | Josephs, KS Roberts, AM Theotokis, P Walsh, R Ostrowski, PJ Edwards, M Fleming, A Thaxton, C Roberts, JD Care, M Zareba, W Adler, A Sturm, AC Tadros, R Novelli, V Owens, E Bronicki, L Jarinova, O Callewaert, B Peters, S Lumbers, T Jordan, E Asatryan, B Krishnan, N Hershberger, RE Chahal, CAA Landstrom, AP James, C McNally, EM Judge, DP Van Tintelen, P Wilde, A Gollob, M Ingles, J Ware, JS |
| Item Type: | Preprint |
| Issue Date: | 3-Apr-2023 |
| URI: | http://hdl.handle.net/10044/1/104401 |
| DOI: | 10.1101/2023.04.03.23287612 |
| Journal / Book Title: | Cold Spring Harbor Laboratory |
| Copyright Statement: | © 2023 The Author(s). It is made available under a CC-BY 4.0 International license. |
| Sponsor/Funder: | British Heart Foundation Sir Jules Thorn Charitable Trust Wellcome Trust National Heart & Lung Institute Foundation |
| Funder's Grant Number: | RE/18/4/34215 21 JTA 200990/A/16/Z N/A |
| Open Access location: | https://www.medrxiv.org/content/medrxiv/early/2023/04/03/2023.04.03.23287612.full.pdf |
| Appears in Collections: | National Heart and Lung Institute Institute of Clinical Sciences |
This item is licensed under a Creative Commons License
