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SRP54
signal recognition particle 54
gene with protein product
OMIM: 604857
1 заболевание
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency
ORPHA:675767
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Редкие заболевания
SRP54
🧬
SRP54
signal recognition particle 54
gene with protein product
OMIM: 604857
1 заболевание
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency
ORPHA:675767
→