Genotype Complements the Phenotype: Identification of the Pathogenicity of an LMNA Splice Variant by Nanopore Long-Read Sequencing in a Large DCM Family
基因型与表型互补：利用纳米孔长读长测序技术鉴定大型扩张型心肌病家族中LMNA剪接变体的致病性
期刊:International Journal of Molecular Sciences
影响因子:0.7
doi:10.3390/ijms232012230
Farbod Sedaghat-Hamedani,Sabine Rebs,Elham Kayvanpour,Chenchen Zhu,Ali Amr,Marion Müller,Jan Haas,Jingyan Wu,Lars M Steinmetz,Philipp Ehlermann,Katrin Streckfuss-Bömeke,Norbert Frey,Benjamin Meder
