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B3GALT6
beta-1,3-galactosyltransferase 6
gene with protein product
OMIM: 615291
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
ORPHA:536467
→
Герминативная мутация (причина)
1
Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
ORPHA:642099
→
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Редкие заболевания
B3GALT6
🧬
B3GALT6
beta-1,3-galactosyltransferase 6
gene with protein product
OMIM: 615291
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
ORPHA:536467
→
Герминативная мутация (причина)
1
Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
ORPHA:642099
→