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XYLT1
xylosyltransferase 1
gene with protein product
OMIM: 608124
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
2
Desbuquois syndrome
ORPHA:1425
→
XYLT1-CDG
ORPHA:370930
→
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Редкие заболевания
XYLT1
🧬
XYLT1
xylosyltransferase 1
gene with protein product
OMIM: 608124
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
2
Desbuquois syndrome
ORPHA:1425
→
XYLT1-CDG
ORPHA:370930
→