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- Title
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
- Authors
Rosano, Kristen K.; Wegner, Daniel J.; Shinawi, Marwan; Baldridge, Dustin; Bucelli, Robert C.; Dahiya, Sonika; White, Frances V.; Willing, Marcia C.; McAllister, William; Taft, Ryan J.; Bluske, Krista; Buchanan, Amanda; Cole, Francis Sessions; Wambach, Jennifer A.
- Publication
American Journal of Medical Genetics. Part A, 2021, Vol 185, Issue 7, p2190
- ISSN
1552-4825
- Publication type
Article
- DOI
10.1002/ajmg.a.62219