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PYCR2
pyrroline-5-carboxylate reductase 2
gene with protein product
OMIM: 616406
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
1
Autosomal recessive primary microcephaly
ORPHA:2512
→
Disease-causing germline mutation(s) (loss of function) in
1
PYCR2-related microcephaly-progressive leukoencephalopathy
ORPHA:481152
→
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Редкие заболевания
PYCR2
🧬
PYCR2
pyrroline-5-carboxylate reductase 2
gene with protein product
OMIM: 616406
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
1
Autosomal recessive primary microcephaly
ORPHA:2512
→
Disease-causing germline mutation(s) (loss of function) in
1
PYCR2-related microcephaly-progressive leukoencephalopathy
ORPHA:481152
→