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AARS2
alanyl-tRNA synthetase 2, mitochondrial
gene with protein product
OMIM: 612035
3 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
2
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
ORPHA:313808
→
Ovarioleukodystrophy
ORPHA:99853
→
Герминативная мутация (причина)
1
Combined oxidative phosphorylation defect type 8
ORPHA:319504
→
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Редкие заболевания
AARS2
🧬
AARS2
alanyl-tRNA synthetase 2, mitochondrial
gene with protein product
OMIM: 612035
3 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
2
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
ORPHA:313808
→
Ovarioleukodystrophy
ORPHA:99853
→
Герминативная мутация (причина)
1
Combined oxidative phosphorylation defect type 8
ORPHA:319504
→