Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A.

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Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A.

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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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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A.

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Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A.

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Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A.

@en

Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A.

@nl

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Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A.

@en

Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A.

@nl

P1476

Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A.

@en

P2093

Carlos A Pardo

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David Valle

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Dimitrios Avramopoulos

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Kathleen H Burns

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Maureen A Mealy

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Michael Levy

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Nara L Sobreira

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Santiago J Pardo

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Tai-Seung Nam

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P2860

Fast and accurate short read alignment with Burrows-Wheeler transform

The ESCRT machinery: new roles at new holes

Analysis of protein-coding genetic variation in 60,706 humans

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

A framework for variation discovery and genotyping using next-generation DNA sequencing data

New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.

Transverse Myelitis: pathogenesis, diagnosis and treatment.

Diagnosis and management of acute myelopathies.

P304

e213

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P31

scholarly article

P356

10.1212/NXG.0000000000000213

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P433

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P478

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P577

2018-01-30T00:00:00Z

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P698

29473047

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P932

5820602

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