1. Sharova, Margarita, Guseva, Darya, Kurenkov, Alexey, Murtazina, Aysylu, Skoblov, Mikhail. 2022. Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene. In American journal of medical genetics. Part A, 188, 3100-3105. doi:10.1002/ajmg.a.62898. https://pubmed.ncbi.nlm.nih.gov/35838082/
2. Böhm, Johann, Malfatti, Edoardo, Oates, Emily, Romero, Norma Beatriz, Laporte, Jocelyn. 2018. Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures. In Journal of medical genetics, 56, 617-621. doi:10.1136/jmedgenet-2018-105390. https://pubmed.ncbi.nlm.nih.gov/30327447/
3. Bradinova, Irena, Andonova, Silvia, Vazharova, Radoslava, Balabanski, Lubomir, Savov, Alexey. 2022. Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss-of-function ASCC1 gene mutation in two Bulgarian Roma patients. In Clinical genetics, 102, 78-79. doi:10.1111/cge.14130. https://pubmed.ncbi.nlm.nih.gov/35338657/
4. Lu, Weiliang, Liang, Mingxing, Su, Jiasun, Gao, Xiaoyan, Shen, Yiping. 2020. Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship. In Molecular genetics & genomic medicine, 8, e1212. doi:10.1002/mgg3.1212. https://pubmed.ncbi.nlm.nih.gov/32160656/
5. Torices, Silvia, Alvarez-Rodríguez, Lorena, Grande, Lara, Martinez-Taboada, Víctor, Fernández-Luna, Jose L. 2015. A Truncated Variant of ASCC1, a Novel Inhibitor of NF-κB, Is Associated with Disease Severity in Patients with Rheumatoid Arthritis. In Journal of immunology (Baltimore, Md. : 1950), 195, 5415-20. doi:10.4049/jimmunol.1501532. https://pubmed.ncbi.nlm.nih.gov/26503956/
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