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Niamh Shaughnessy
Niamh Shaughnessy
Temple University
Diabetes mellitus
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Gene
Genetics
Biology
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X- Linked Infantile Spinal Muscular Atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype
2019
Neuromuscular Disorders
Niamh Shaughnessy
Eva B. Forman
Declan O'Rourke
Sally Ann Lynch
Bryan Lynch
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