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    A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization

    A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization by Leping Li, Lalith Perera, Sonia A. Varghese, Yael Shiloh-Malawsky, Senyene E. Hunter, Tam P. Sneddon, Cynthia M. Powell, A. Gregory Matera, Zheng Fan

    Published 2023-09-01
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