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PYCR1 - pyrroline-5-carboxylate reductase 1
Diseases list
- Disease-causing germline mutation(s) in Geroderma osteodysplastica
ORPHA:2078 
- Disease-causing germline mutation(s) in PYCR1-related De Barsy syndrome
ORPHA:293633 - Disease-causing germline mutation(s) (loss of function) in Autosomal recessive cutis laxa type 2B
ORPHA:357064
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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