Clinical utility of medical exome sequencing: expanded carrier screening for patients seeking assisted reproductive technology in china

HIGHLIGHTS

• who: Han Chinese ethnicity and collaborators from the Screening in ChinaWuhan University, China have published the research work: Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China, in the Journal: (JOURNAL)
• what: This study provided insight to establish a suitable ECS gene panel for the population. This study reported that GALC had a rather high carrier frequency of 2.10% in China, along with the hotspot mutation c.1901T > C (p.L634S), which accounted for 96.8% (91/94) of the detected variants.
• how: When . . .
  

   

  

  If you want to have access to all the content you need to log in!

  Thanks :)

  Username or Email

  Password

  Remember me

  Lost your password?

  If you don't have an account, you can create one here.