Targeted gene under study
We have identified a heterozygous LoF variant of GSK3B in a family with syndromic developmental disorder and we are looking for other patients carrying variants of this gene.
Dr Sandrine Marlin – email@example.com
Genomic medicine for rares diseases; Hopital Necker; Paris, France
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: Yes
- Linked to a translational/basic research project: Yes