Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation.

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Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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name

Somatic second hit mutation of ...... on-arteriovenous malformation.

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Somatic second hit mutation of ...... on-arteriovenous malformation.

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Item

label

Somatic second hit mutation of ...... on-arteriovenous malformation.

@en

Somatic second hit mutation of ...... on-arteriovenous malformation.

@nl

prefLabel

Somatic second hit mutation of ...... on-arteriovenous malformation.

@en

Somatic second hit mutation of ...... on-arteriovenous malformation.

@nl

P1476

Somatic second hit mutation of ...... on-arteriovenous malformation.

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P2093

Abbas Doosti

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Patricia E Burrows

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

Paula North

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

Philip D King

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Philip E Lapinski

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Valerie Salato

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P2860

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations

The molecular regulation of arteriovenous specification and maintenance

Vascular system defects and neuronal apoptosis in mice lacking ras GTPase-activating protein

Lymphatic abnormalities are associated with RASA1 gene mutations in mouse and man.

Blood vascular abnormalities in Rasa1(R780Q) knockin mice: implications for the pathogenesis of capillary malformation-arteriovenous malformation.

RASA1 maintains the lymphatic vasculature in a quiescent functional state in mice.

Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species.

Nonredundant functions for Ras GTPase-activating proteins in tissue homeostasis.

RASA1 regulates the function of lymphatic vessel valves in mice.

A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations.

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11-16

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scholarly article

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10.1016/J.EJMG.2017.10.004

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2017-10-09T00:00:00Z

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29024832

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5766414

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