CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.

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CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.

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CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.

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CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.

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CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.

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CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.

@en

CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.

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P1476

CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.

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P2093

Chunmei Wang

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

Fang Yuan

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Hongyi Cheng

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Jiaming Xi

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Kunfang Yang

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Linyi Meng

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Qin Lu

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Rongrong Yin

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Simei Wang

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Yanfen Lu

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P2860

Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients

End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit

The array CGH and its clinical applications.

Congenital myasthenic syndromes in 2012.

Current status of the congenital myasthenic syndromes.

Congenital myasthenic syndrome: a brief review.

Congenital myasthenic syndromes and the neuromuscular junction.

A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers.

Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.

An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome.

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e0347

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P31

scholarly article

case report

P356

10.1097/MD.0000000000010347

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P407

English

P433

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P478

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P577

2018-04-01T00:00:00Z

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P698

29702980

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P932

5944527

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