Submission for antisense drug development

Submitter information

Are you a healthcare provider?
Is a genetic counsellor available?

Caring clinician

Permission to contact the caring clinician?

If the submitter name and contact are the same as the clinician, please skip to the 'Details' section.

Details

Patient cell availability?
Is the patient committed to cell collection, including skin biopsies?
Is the patient committed to the program?
Has the variant been reported before?
Do you know the pathogenic mechanism of the variant?
Has the variant been studied for a splicing defect?
Supporting PDFs and data can be emailed to moleculartherapy@murdoch.edu.au.