Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.
Sengillo JD, Lee W, Bilancia CG, Jobanputra V, Tsang SH.
Sengillo JD, et al.
Doc Ophthalmol. 2018 Apr;136(2):125-133. doi: 10.1007/s10633-018-9626-1. Epub 2018 Feb 6.
Doc Ophthalmol. 2018.
PMID: 29411205
Free PMC article.
Whole-exome sequencing revealed compound heterozygous variants in SPATA7 that were predicted to be pathogenic. CONCLUSIONS: Compound heterozygous c.1100A > G, p....
Whole-exome sequencing revealed compound heterozygous variants in SPATA7 that were predicted to be pathogenic. CONCLUSIONS: Compound …