Neurogenetic disorders in the Basque population.

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The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.

P2860

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P2860

Neurogenetic disorders in the Basque population.

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http://www.wikidata.org/entity/Q38273952

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2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

@zh-hans

2014年学术文章

@zh-my

2014年学术文章

@zh-sg

2014年學術文章

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2014年學術文章

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2014年學術文章

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name

Neurogenetic disorders in the Basque population.

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type

Item

label

Neurogenetic disorders in the Basque population.

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Neurogenetic disorders in the Basque population.

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P1476

Neurogenetic disorders in the Basque population.

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P2093

Juan José Zarranz

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P2860

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

LGI1 mutations in autosomal dominant partial epilepsy with auditory features.

The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

Localization of a gene for partial epilepsy to chromosome 10q

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

Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

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

P304

57-75

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scholarly article

P356

10.1111/AHG.12088

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English

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P478

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David Otaegui

José Félix Martí Massó

Q64780336

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2014-12-01T00:00:00Z

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P5875

268988793

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25440984

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Neurogenetic disorders in the Basque population.

about

P2860

P2860

Neurogenetic disorders in the Basque population.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P5875

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P5875

P698