Haiyan Bai Xia Xue Li Tian Xi Tong Liu Qian Li
10.3389/fgene.2020.589899
Front Genet
2021 Mar 5;11:589899.
chromosome copy number variation hemophilia a next-generation sequencing p(phe690leu)/c2070c > a preimplantation genetic testing for monogenic disease single nucleotide polymorphism
CC BY
https://pubmed.ncbi.nlm.nih.gov/33747028/
PMC7973284
33747028
Case Report: Identification of a de novo Missense Mutation in the F8 Gene, p.(Phe690Leu)/c.2070C > A, Causing Hemophilia A: A Case Report
2021