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RSPRY1
ring finger and SPRY domain containing 1
gene with protein product
OMIM: 616585
1 заболевание
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
ORPHA:457395
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Редкие заболевания
RSPRY1
🧬
RSPRY1
ring finger and SPRY domain containing 1
gene with protein product
OMIM: 616585
1 заболевание
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
ORPHA:457395
→