Last Updated: 09/26/2026
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Found 2 publications
Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome.
Journal: Cold Spring Harbor molecular case studies
Published: August 18, 2022
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
Journal: American journal of medical genetics. Part A
Published: December 12, 2019
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Last Updated: 09/26/2026