Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases
纯合性片段在罕见病患者遗传病因鉴定中的临床应用价值
期刊:Genetics in Medicine Open
影响因子:
doi:10.1016/j.gimo.2025.103454
Sivakumaran, Theru A; Azab, Bilal; Hershman, Emily; Sivakumaran, Ananditha; Friedman, Neil R; Raz, Dannah; Neilson, Derek; Grebe, Theresa A