Hirschsprung associated GDNF mutations do not prevent RET activation.

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Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease GFRA1: A Novel Molecular Target for the Prevention of Osteosarcoma Chemoresistance.

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Q28302375-4E895EF1-27AD-4585-A8BE-D25B3A6F1FED Q52607614-2538DD9F-C79C-4CE5-B10A-862DB726F7CF

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Hirschsprung associated GDNF mutations do not prevent RET activation.

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http://www.wikidata.org/entity/Q40735895

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2002 nî lūn-bûn

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2002年の論文

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2002年学术文章

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2002年学术文章

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2002年學術文章

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2002年學術文章

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Hirschsprung associated GDNF mutations do not prevent RET activation.

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label

Hirschsprung associated GDNF mutations do not prevent RET activation.

@en

prefLabel

Hirschsprung associated GDNF mutations do not prevent RET activation.

@en

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Hirschsprung associated GDNF mutations do not prevent RET activation

@en

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Giulia Bonardi

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

Giuseppe Santamaria

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Isabella Ceccherini

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

Ivana Matera

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Roberto Ravazzolo

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Silvia Borghini

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P2860

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

Defects in enteric innervation and kidney development in mice lacking GDNF

GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF

Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility

Mutations of the RET-GDNF signaling pathway in Ondine's curse

X-ray structure of glial cell-derived neurotrophic factor at 1.9 A resolution and implications for receptor binding

Genetics of Hirschsprung disease

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

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sj.ejhg.5200785

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183-187

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scholarly article

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10.1038/SJ.EJHG.5200785

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

P478

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

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Renata Bocciardi

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2002-03-01T00:00:00Z

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

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11394489

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P6179

1036403162

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P698

11973622

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Hirschsprung associated GDNF mutations do not prevent RET activation.

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P2860

P2860

Hirschsprung associated GDNF mutations do not prevent RET activation.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P6179

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P6179

P698