Associated Papers
Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5.
Fisher Y et al.
American Journal of Medical Genetics. Part A, 2025
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.
Mencacci NE et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
Charng WL et al.
Bmc Medical Genomics, 2016
27435318 (PubMed )
Supplement: 12920_2016_208_MOESM1_ESM.xls › Table_S1
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