A de novo c.113 T &gt; C: p.L38R mutation of <i>SPTLC1</i>: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis

Xiaoxuan Liu(Yunnan University), Dongsheng Fan(King University), Ji He(Peking University), Weiyi Yu(Peking University)
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
October 2, 2022
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