Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations
CCM2 cDNA杂合性缺失揭示了一种导致多发性脑海绵状血管畸形的结构变异
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01626-7
Chaussenot, Annabelle; Ayrignac, Xavier; Chatron, Nicolas; Granchon-Riolzir, Terry; Labauge, Pierre; Tournier-Lasserve, Elisabeth; Riant, Florence