article_metadata: Sara L Cook Christian Stout Lindsey Kirkeby Noemi Vidal-Folch Devin Oglesbee Linda Hasadsri Duygu Selcen Margherita Milone Daniel Anderson Nathan P Staff
article_metadata: 10.3389/fgene.2024.1406819
article_metadata: Front Genet
article_metadata: 2024 Jul 30:15:1406819.
article_metadata: smn1 c5c>g diagnostic testing exon 1 nuclear gems pala2gly spinal muscular atrophy
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39139818/
article_metadata: PMC11319185
article_metadata: 39139818
article_metadata: SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts
article_metadata: 2024