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SPOP
speckle type BTB/POZ protein
gene with protein product
OMIM: 602650
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (gain of function) in
1
Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
ORPHA:662179
→
Disease-causing germline mutation(s) (loss of function) in
1
Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome
ORPHA:662175
→
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Редкие заболевания
SPOP
🧬
SPOP
speckle type BTB/POZ protein
gene with protein product
OMIM: 602650
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (gain of function) in
1
Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
ORPHA:662179
→
Disease-causing germline mutation(s) (loss of function) in
1
Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome
ORPHA:662175
→