Targeted gene under study
SCAPER (OMIM # 618195)
We are collecting clinical and molecular data from patients with bi-allelic pathogenic variants (SNV or CNV) in SCAPER, for a publication.
If you are interested in participating in this project, please contact us.
Charlotte Tardy (Resident) – firstname.lastname@example.org
Dr Sabine Sigaudy, Dr Missirian Chantal, Dr Svetlana Gorokhova
AP-HM, Hôpital Timone enfants, Marseille
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: No