Clinical utility gene card for: Johanson-Blizzard syndrome.

about

Mutations in the human UBR1 gene and the associated phenotypic spectrum.Johanson-Blizzard syndrome: hepatic and hematological features with novel genotype.

P2860

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P2860

Clinical utility gene card for: Johanson-Blizzard syndrome.

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http://www.wikidata.org/entity/Q39122615

description

2013 nî lūn-bûn

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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2013年论文

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name

Clinical utility gene card for: Johanson-Blizzard syndrome.

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Clinical utility gene card for: Johanson-Blizzard syndrome.

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type

Item

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Clinical utility gene card for: Johanson-Blizzard syndrome.

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Clinical utility gene card for: Johanson-Blizzard syndrome.

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Clinical utility gene card for: Johanson-Blizzard syndrome.

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Clinical utility gene card for: Johanson-Blizzard syndrome.

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P1476

Clinical utility gene card for: Johanson-Blizzard syndrome.

@en

P2860

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Johanson-Blizzard syndrome

Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome

A case of Johanson-Blizzard syndrome complicated by diabetes mellitus.

Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome.

Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach.

Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement.

Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.

Anorectal anomalies associated with or as part of other anomalies

P2888

ejhg.2013.65

P31

scholarly article

P356

10.1038/EJHG.2013.65

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Julia Mayerle

Martin Zenker

Maja Sukalo

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2013-05-08T00:00:00Z

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P932

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Clinical utility gene card for: Johanson-Blizzard syndrome.

about

P2860

P2860

Clinical utility gene card for: Johanson-Blizzard syndrome.

description

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type

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P1433

P1476

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