Importance of standard nomenclature for SMN1 small intragenic ("subtle") mutations
- PMID: 15024734
- DOI: 10.1002/humu.20013
Importance of standard nomenclature for SMN1 small intragenic ("subtle") mutations
Comment on
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A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.Hum Mutat. 2003 Aug;22(2):136-43. doi: 10.1002/humu.10245. Hum Mutat. 2003. PMID: 12872254
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