A diagnostic RNA sequencing assay for direct identification and interpretation of pathogenic variants in the FBN1 gene
一种用于直接鉴定和解读FBN1基因致病变异的诊断性RNA测序检测方法
期刊:Frontiers in Molecular Biosciences
影响因子:4
doi:10.3389/fmolb.2025.1693943
Irshaid, Manal; Al Mansoori, Ghadeera; Sulaiman, Mohamed; Mohamed, Asjed; Abdoh, Mohammed; Shalaby, Youssef M; Al-Zohily, Bashar; Batool, Aalia; Aleissaee, Sara; Alzyoud, Lara; Ali, Bassam R; Al Saffar, Muna; Akawi, Nadia