Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.

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Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.

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http://www.wikidata.org/entity/Q53809105

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2016 nî lūn-bûn

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2016年の論文

@ja

2016年学术文章

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2016年学术文章

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2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

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2016年學術文章

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2016年學術文章

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Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.

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Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.

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Item

label

Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.

@en

Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.

@nl

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Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.

@en

Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.

@nl

P1476

Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.

@en

P2093

Dirk J Lefeber

http://www.w3.org/2001/XMLSchema#string

Jaak Jaeken

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P2860

A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.

Further defining the phenotypic spectrum of B4GALT7 mutations

P2888

ejhg.2016.151

P31

scholarly article

P356

10.1038/EJHG.2016.151

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Gert Matthijs

P577

2016-11-09T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P6179

1002339366

http://www.w3.org/2001/XMLSchema#string

P698

27827381

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P921

glycosylation

P932

5255951

http://www.w3.org/2001/XMLSchema#string