Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan.

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Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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2017年學術文章

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Clinical and mutational spectr ...... ed by MORC2 variants in Japan.

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Clinical and mutational spectr ...... ed by MORC2 variants in Japan.

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Clinical and mutational spectr ...... ed by MORC2 variants in Japan.

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P1476

Clinical and mutational spectr ...... ed by MORC2 variants in Japan.

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P2093

A Hashiguchi

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A Yoshimura

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H Ishiura

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H Takashima

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J Mitsui

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J Tsugawa

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J-H Yuan

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N Ochi

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S Fukumura

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S Morishita

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P2860

Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy

Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.

MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.

The MORC family: new epigenetic regulators of transcription and DNA damage response.

Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.

Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.

DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.

P304

1274-1282

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P31

scholarly article

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10.1111/ENE.13360

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P433

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

P478

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P50

Masaaki Matsushima

Masahiro Ando

P577

2017-08-03T00:00:00Z

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P698

28771897

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