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PYCR1

pyrroline-5-carboxylate reductase 1

gene with protein productOMIM: 1790353 заболевания
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)2
Geroderma osteodysplasticaORPHA:2078
→
PYCR1-related De Barsy syndromeORPHA:293633
→
Disease-causing germline mutation(s) (loss of function) in1
Autosomal recessive cutis laxa type 2BORPHA:357064
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Данные: Orphadata (CC-BY-4.0)