A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.

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Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

P2860

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P2860

A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.

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http://www.wikidata.org/entity/Q50307265

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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

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2017年学术文章

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2017年學術文章

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name

A common SLC26A4-linked haplot ...... nt of the vestibular aqueduct.

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A common SLC26A4-linked haplot ...... nt of the vestibular aqueduct.

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type

Item

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A common SLC26A4-linked haplot ...... nt of the vestibular aqueduct.

@en

A common SLC26A4-linked haplot ...... nt of the vestibular aqueduct.

@nl

prefLabel

A common SLC26A4-linked haplot ...... nt of the vestibular aqueduct.

@en

A common SLC26A4-linked haplot ...... nt of the vestibular aqueduct.

@nl

P1476

A common SLC26A4-linked haplot ...... nt of the vestibular aqueduct.

@en

P2093

Alejandro A Schäffer

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Andrew J Griffith

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E Michael Gertz

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Isabelle Roux

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Jessica S Ratay

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Julie A Muskett

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Keiji Honda

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Lisbeth Tranebjærg

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Nanna D Rendtorff

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Parna Chattaraj

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P2860

Fast and accurate short read alignment with Burrows-Wheeler transform

Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)

SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct

SLC26A4 targeted to the endolymphatic sac rescues hearing and balance in Slc26a4 mutant mice.

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

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

A general framework for estimating the relative pathogenicity of human genetic variants

SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct.

Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts.

P304

665-673

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scholarly article

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10.1136/JMEDGENET-2017-104721

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English

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Davide Risso

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2017-08-05T00:00:00Z

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28780564

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5880640

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A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.

about

P2860

P2860

A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932