Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement

1. Johari, M.
2. Topf, A.
3. Folland, C.
4. Duff, J.
5. Dofash, L.
6. Marti, P.
7. Robertson, T.
8. Vilchez, J.
9. Cairns, A.
10. Harris, E.
11. Marini-Bettolo, C.
12. Hundallah, K.
13. Alhashem, A.M.
14. Al-Owain, M.
15. Maroofian, R.
16. Ravenscroft, G.
17. Straub, V.

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DOI: 10.1136/JMG-2024-109970 GOOGLE SCHOLAR lock_openOpen access editor

Data source: Scopus