Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.
about
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.Inhibition of p70 S6 kinase activity by A77 1726 induces autophagy and enhances the degradation of superoxide dismutase 1 (SOD1) protein aggregates.A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.TAK1 restricts spontaneous NLRP3 activation and cell death to control myeloid proliferation.An -Ethyl--Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral FusionAn integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery
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P2860
Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 14 July 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Heterozygous Mutations in MAP3 ...... ospondylocarpofacial Syndrome.
@en
Heterozygous Mutations in MAP3 ...... ospondylocarpofacial Syndrome.
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type
label
Heterozygous Mutations in MAP3 ...... ospondylocarpofacial Syndrome.
@en
Heterozygous Mutations in MAP3 ...... ospondylocarpofacial Syndrome.
@nl
prefLabel
Heterozygous Mutations in MAP3 ...... ospondylocarpofacial Syndrome.
@en
Heterozygous Mutations in MAP3 ...... ospondylocarpofacial Syndrome.
@nl
P2093
P2860
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P1476
Heterozygous Mutations in MAP3 ...... ospondylocarpofacial Syndrome.
@en
P2093
Curtis Rogers
Damien Bonnet
Graziella Pinto
Patrick Nistchke
P2860
P304
P356
10.1016/J.AJHG.2016.06.005
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P50
P577
2016-07-14T00:00:00Z