Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis
基因组测序发现SNX10基因存在大片段非编码区缺失,导致常染色体隐性骨硬化症。
期刊:Journal of Human Genetics
影响因子:2.5
doi:10.1038/s10038-022-01104-2
Udupa, Prajna; Ghosh, Debasish Kumar; Kausthubham, Neethukrishna; Shah, Hitesh; Bartakke, Sandip; Dalal, Ashwin; Girisha, Katta M; Bhavani, Gandham SriLakshmi