Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.

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Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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Mutation analysis of SLC26A4 ( ...... of hearing-impaired subjects.

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Mutation analysis of SLC26A4

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label

Mutation analysis of SLC26A4 ( ...... of hearing-impaired subjects.

@en

Mutation analysis of SLC26A4

@nl

prefLabel

Mutation analysis of SLC26A4 ( ...... of hearing-impaired subjects.

@en

Mutation analysis of SLC26A4

@nl

P1476

Mutation analysis of SLC26A4 ( ...... e of hearing-impaired subjects

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P2093

Ana Carla Batissoco

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Guilherme Lopes Yamamoto

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Karina Lezirovitz

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Maria Teresa Balester de Mello Auricchio

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Renata Watanabe Nonose

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P2860

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

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)

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

A method and server for predicting damaging missense mutations

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

A mutation in PDS causes non-syndromic recessive deafness

Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear

Pendrin is an iodide-specific apical porter responsible for iodide efflux from thyroid cells

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

P2888

s12881-018-0585-x

P304

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scholarly article

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10.1186/S12881-018-0585-X

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P433

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P478

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P50

Regina Celia Mingroni Netto

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2018-05-08T00:00:00Z

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P6179

1103882186

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29739340

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5941635

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