Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy. - Wikidata - awgldk - TriplyDB

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

http://www.wikidata.org/entity/Q37572954

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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

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Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

http://www.wikidata.org/entity/Q37572954

description

article científic

@ca

article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 20 December 2016

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

@en

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

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type

label

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

@en

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

@nl

prefLabel

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

@en

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

@nl

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Annals of clinical and translational neurology

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Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

@en

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Alexander G Bassuk

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

Alice Masurel-Paulet

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Allison Cox

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Ariane Soldatos

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Christel Thauvin-Robinet

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Corrine Chantegret

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Hala Boulos

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Hatem El-Shanti

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Jamil Al-Alami

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Jean Baptiste Riviere

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P2860

Genetic variation in SCN10A influences cardiac conduction

Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

De novo mutations in epileptic encephalopathies

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels

Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)

An SCN9A channelopathy causes congenital inability to experience pain

Sodium channels, inherited epilepsy, and antiepileptic drugs

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26-35

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scholarly article

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10.1002/ACN3.372

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1

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4

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NISC Comparative Sequencing Program

James C Mullikin

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2016-12-20T00:00:00Z

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28078312

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5221474

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