Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
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DOI: 10.3390/ijms23158289
Abstract: Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by biallelic loss or pathogenic variants in the SMN1 gene. Copy number and modifier intragenic variants in SMN2, an almost identical paralog gene of SMN1,… read more here.
Keywords: smn2; spinal muscular; variant smn2; muscular atrophy ... See more keywords