Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)

Kristen K. Rosano, Daniel J. Wegner, Marwan Shinawi, Dustin Baldridge, Robert C. Bucelli, Sonika Dahiya, Frances V. White, Marcia C. Willing, William McAllister, Ryan J. Taft, Krista Bluske, Amanda Buchanan, Francis Sessions Cole, Jennifer A. Wambach

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Medicine & Life Sciences