Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.

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Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts Profiles of differentially expressed genes and overexpression of NEBL indicates a positive prognosis in patients with colorectal cancer.

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Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.

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http://www.wikidata.org/entity/Q36845298

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年论文

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Mutations in NEBL encoding the ...... with various cardiomyopathies.

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type

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label

Mutations in NEBL encoding the ...... with various cardiomyopathies.

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Mutations in NEBL encoding the ...... with various cardiomyopathies.

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Mutations in NEBL encoding the ...... with various cardiomyopathies

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Annalisa Angelini

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Cemil Özcelik

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

Janine Lossie

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Josef Veselka

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Marzia De Bortoli

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Paola Melacini

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Pavol Tomasov

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

Silke R Sperling

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

Tamás Simor

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Functional dissection of nebulette demonstrates actin binding of nebulin-like repeats and Z-line targeting of SH3 and linker domains

Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies

Targeted disruption of nebulette protein expression alters cardiac myofibril assembly and function

Nebulette interacts with filamin C

Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy

Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis

Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs

The nebulette repeat domain is necessary for proper maintenance of tropomyosin with the cardiac sarcomere

The amino-acid mutational spectrum of human genetic disease

A method and server for predicting damaging missense mutations

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263-278

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scholarly article

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10.5114/AOMS.2016.59250

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2016-04-11T00:00:00Z

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27186169

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4848357

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Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.

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Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.

description

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P1476

P2093

P2860

P304

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P356

P433

P478

P50

P577

P698

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P1476

P2093

P2860

P304

P31

P356

P433

P478

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P577

P698

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