Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
IFAP综合征中复发性MBTPS2变异c.970+5G>A:突变热点
期刊:Human Genome Variation
影响因子:1.3
doi:10.1038/s41439-026-00346-2
Kumar, Sheetal; Ahmed, Sohail; Incardona, Pietro; Cesarato, Nicole; Zhang, Yue; Natale, Monica Ines; Khan, Muhammad Javed; Valinotto, Laura; Ullah, Kifayat; Ahmad, Wasim; Irurzun, Ines; Krawitz, Peter M; Liang, Bo; Betz, Regina C