N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder
CACNB1基因N端截短变异会导致一种新的先天性肌肉疾病。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01944-4
Iturrate, Asier; Assia Batzir, Nurit; Jaron, Ranit; Garcia-Valentin, David; Nevado, Julian; Tenorio-Castano, Jair; Lapunzina, Pablo; Lee, Kamila; Greenberg, Rotem; Sassi, Dvora; Aharoni, Sharon; Kuzminsky, Alla; Basel-Salmon, Lina; Orenstein, Naama; Fellig, Yakov; Ben-Shachar, Shay; Marek-Yagel, Dina; Ruiz-Perez, Victor L