Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
- Cited forNUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANTS CMYP3 GLU-273; ARG-293 AND GLN-466, VARIANTS TYR-142 AND LYS-502, TISSUE SPECIFICITY
- CategoriesSequences, Expression
- SourceUniProtKB reviewed (Swiss-Prot)