The association between LOC130056971 (ATAC-STARR-Seq Lymphoblastoid Silent Region 6398) and Spastic Paraplegia 11 is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.
Sources1
Clinical variants21
Symptoms3
Compounds0
Trials0
Publications6
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.