Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.

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Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.

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http://www.wikidata.org/entity/Q36194437

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

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2016年论文

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Novel homozygous missense muta ...... anguineous family from Israel.

@ast

Novel homozygous missense muta ...... anguineous family from Israel.

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label

Novel homozygous missense muta ...... anguineous family from Israel.

@ast

Novel homozygous missense muta ...... anguineous family from Israel.

@en

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Novel homozygous missense muta ...... anguineous family from Israel.

@ast

Novel homozygous missense muta ...... anguineous family from Israel.

@en

P1476

Novel homozygous missense muta ...... anguineous family from Israel.

@en

P2093

Andrew H Crosby

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Aviva Mimouni-Bloch

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Gaurav V Harlalka

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Katy E S Barwick

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Meriel M McEntagart

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Rachel Straussberg

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Sharon Aharoni

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Yoram Nevo

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P2860

Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival

A method and server for predicting damaging missense mutations

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

Gigaxonin is associated with the Golgi and dimerises via its BTB domain.

Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.

Identification of seven novel mutations in the GAN gene.

Predicting the functional effect of amino acid substitutions and indels

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test

Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).

P2888

s12881-016-0343-x

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scholarly article

P356

10.1186/S12881-016-0343-X

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P433

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

P478

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

P50

Barry A Chioza

Aviva Mimouni Bloch

Michael N Weedon

P577

2016-11-16T00:00:00Z

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P6179

1026082285

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P698

27852232

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P921

Israel

P932

5112725

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