• Gene deletion; HGNC; HGNC:11117; SMN1; Zygosity=Heterozygous (PubMed=28284873; PubMed=33197628).
  

PubMed=26247043; DOI=10.1002/mgg3.141; PMCID=PMC4521962
Stabley D.L., Harris A.W., Holbrook J., Chubbs N.J., Lozo K.W., Crawford T.O., Swoboda K.J., Funanage V.L., Wang W.-L., Mackenzie W., Scavina M., Sol-Church K., Butchbach M.E.R.
SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR.
Mol. Genet. Genomic Med. 3:248-257(2015)

PubMed=28284873; DOI=10.1016/j.nmd.2017.02.002; PMCID=PMC5403612
Stabley D.L., Holbrook J., Harris A.W., Swoboda K.J., Crawford T.O., Sol-Church K., Butchbach M.E.R.
Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR.
Neuromuscul. Disord. 27:439-446(2017)

PubMed=33197628; DOI=10.1016/j.jmoldx.2020.10.011; PMCID=PMC9641717
Prior T.W., Bayrak-Toydemir P., Lynnes T.C., Mao R., Metcalf J.D., Muralidharan K., Iwata-Otsubo A., Pham H.T., Pratt V.M., Qureshi S., Requesens D.V., Shen J.-Q., Vetrini F., Kalman L.V.
Characterization of reference materials for spinal muscular atrophy genetic testing: a genetic testing reference materials coordination program collaborative project.
J. Mol. Diagn. 23:103-110(2021)