SMN1

Spinal muscular atrophy (SMA)

2 article(s) in the watch · Constitutional genetics

Curated publications

Characterisation of the SMN1/SMN2 locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals.

Spinal muscular atrophy (SMA)

Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.

Spinal muscular atrophy

Automatic aggregation page — a clinical introduction may be added.