MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

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Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.

P2860

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P2860

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

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http://www.wikidata.org/entity/Q50933525

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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

@zh-hans

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

@yue

2017年學術文章

@zh-hant

name

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

@en

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

@nl

type

Item

label

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

@en

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

@nl

prefLabel

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

@en

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

@nl

P1476

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

@en

P2093

Albena Jordanova

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Ayse Candayan

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Esra Battaloglu

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Inge Cuppen

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Katrina M Bell

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Koen L I van Gassen

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Liisa Kauppi

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Maie Walsh

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Marie-José H van den Boogaard

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

Mariia Shcherbii

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P2860

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease

An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

Gle1 functions during mRNA export in an oligomeric complex that is altered in human disease

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.

Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exon

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

Advances in understanding - genetic basis of intellectual disability

Functional and structural characterization of the mammalian TREX-2 complex that links transcription with nuclear messenger RNA export

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

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2093-2103

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scholarly article

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10.1093/BRAIN/AWX138

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English

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140

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Alicia Oshlack

Paul J. Lockhart

Henna Tyynismaa

Alejandro Estrada-Cuzcano

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2017-06-19T00:00:00Z

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P698

28633435

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MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

about

P2860

P2860

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

description

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698