Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders
对临床外显子组的重新分析在两名患有隐性遗传疾病的个体中发现了第二个变异。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-023-01291-2
Li, Qifei; Agrawal, Rohan; Schmitz-Abe, Klaus; Genetti, Casie A; Fernandes, Melissa A; Fryou, Noah L; Madden, Jill A; Brownstein, Catherine A; Smith, Edward C; Rajabi, Farrah; Beggs, Alan H; Agrawal, Pankaj B
