Detection of very low-level somatic mosaic col4a5 splicing variant in asymptomatic female using droplet digital pcr

HIGHLIGHTS

• who: Jie Ding and Fang Wang from the Department of Pediatrics, Peking University First Hospital, Beijing, China have published the Article: Detection of Very Low-Level Somatic Mosaic COL4A5 Splicing Variant in Asymptomatic Female Using Droplet Digital PCR, in the Journal: (JOURNAL)

SUMMARY

If this disease-causing variant was inherited from mosaicism in one of the healthy parents, the mosaic parent is at an increased risk of passing on the same disease-causing variant to additional offspring with the risk depending on the proportion of mosaicism within the germ cell progenitors. In the . . .

 



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