Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

1. Rafehi, H.
2. Szmulewicz, D.J.
3. Bennett, M.F.
4. Sobreira, N.L.M.
5. Pope, K.
6. Smith, K.R.
7. Gillies, G.
8. Diakumis, P.
9. Dolzhenko, E.
10. Eberle, M.A.
11. Barcina, M.G.
12. Breen, D.P.
13. Chancellor, A.M.
14. Cremer, P.D.
15. Delatycki, M.B.
16. Fogel, B.L.
17. Hackett, A.
18. Halmagyi, G.M.
19. Kapetanovic, S.
20. Lang, A.
21. Mossman, S.
22. Mu, W.
23. Patrikios, P.
24. Perlman, S.L.
25. Rosemergy, I.
26. Storey, E.
27. Watson, S.R.D.
28. Wilson, M.A.
29. Zee, D.S.
30. Valle, D.
31. Amor, D.J.
32. Bahlo, M.
33. Lockhart, P.J.
34. Show all authors +

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DOI: 10.1016/J.AJHG.2019.05.016 GOOGLE SCHOLAR lock_openOpen access editor

Data source: Scopus