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QARS1
glutaminyl-tRNA synthetase 1
gene with protein product
OMIM: 603727
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
ORPHA:404437
→
Герминативная мутация (причина)
1
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
ORPHA:423306
→
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Редкие заболевания
QARS1
🧬
QARS1
glutaminyl-tRNA synthetase 1
gene with protein product
OMIM: 603727
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
ORPHA:404437
→
Герминативная мутация (причина)
1
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
ORPHA:423306
→