Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.

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Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.

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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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Efficacy of Exome-Targeted Cap ...... Known Cerebellar Ataxia Genes.

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Efficacy of Exome-Targeted Cap ...... Known Cerebellar Ataxia Genes.

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Efficacy of Exome-Targeted Cap ...... Known Cerebellar Ataxia Genes.

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Efficacy of Exome-Targeted Cap ...... Known Cerebellar Ataxia Genes.

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Efficacy of Exome-Targeted Cap ...... Known Cerebellar Ataxia Genes.

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Efficacy of Exome-Targeted Cap ...... Known Cerebellar Ataxia Genes.

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P1476

Efficacy of Exome-Targeted Cap ...... Known Cerebellar Ataxia Genes.

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P2093

Alexandra Afenjar

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Chantal Tallaksen

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Claire Ewenczyk

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Claire-Sophie Davoine

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Cyril Goizet

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Cyril Mignot

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Elisabeth Ollagnon-Roman

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Emmanuel Broussolle

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Fanny Mochel

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Giovanni Castelnovo

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P2860

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A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

Guidelines for investigating causality of sequence variants in human disease

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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

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scholarly article

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10.1001/JAMANEUROL.2017.5121

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English

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P577

2018-02-26T00:00:00Z

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29482223

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5885259

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