Clinical utility gene card for: Nemaline myopathy - update 2015.

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Mutation-specific effects on thin filament length in thin filament myopathy.Prenatal diagnosis of congenital myopathies and muscular dystrophies.Overview of the Muscle Cytoskeleton.Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy.

P2860

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P2860

Clinical utility gene card for: Nemaline myopathy - update 2015.

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http://www.wikidata.org/entity/Q36184586

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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Clinical utility gene card for: Nemaline myopathy - update 2015.

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Clinical utility gene card for: Nemaline myopathy - update 2015.

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Clinical utility gene card for: Nemaline myopathy - update 2015.

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Clinical utility gene card for: Nemaline myopathy - update 2015.

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Clinical utility gene card for: Nemaline myopathy - update 2015.

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Clinical utility gene card for: Nemaline myopathy - update 2015.

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P1476

Clinical utility gene card for: Nemaline myopathy - update 2015

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P2093

Carina Wallgren-Pettersson

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Kristen J Nowak

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Mark R Davis

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Phillipa J Lamont

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P2860

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree

Cap disease due to mutation of the beta-tropomyosin gene (TPM2)

Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)

P2888

ejhg.2015.12

P31

scholarly article

P356

10.1038/EJHG.2015.12

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P478

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Nigel G Laing

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2015-02-25T00:00:00Z

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25712079

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4613474

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Clinical utility gene card for: Nemaline myopathy - update 2015.

about

P2860

P2860

Clinical utility gene card for: Nemaline myopathy - update 2015.

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P1433

P1476

P2093

P2860

P2888

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P698

P932

P356

P1433

P1476

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P577

P698

P932