Germinal mosaicism in a family with BO syndrome.

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A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome.

P2860

Q52649501-D69DE581-C363-4C36-B830-F83E1A502EDC

P2860

Germinal mosaicism in a family with BO syndrome.

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http://www.wikidata.org/entity/Q41205863

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2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

2015年论文

@zh

2015年论文

@zh-cn

name

Germinal mosaicism in a family with BO syndrome.

@en

type

Item

label

Germinal mosaicism in a family with BO syndrome.

@en

prefLabel

Germinal mosaicism in a family with BO syndrome.

@en

P1476

Germinal mosaicism in a family with BO syndrome

@en

P2093

Maiko Miyagawa

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Mitsuru Hattori

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Shin-Ichi Usami

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Yutaka Takumi

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P2860

A method and server for predicting damaging missense mutations

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

MutationTaster evaluates disease-causing potential of sequence alterations

Detection of nonneutral substitution rates on mammalian phylogenies

Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.

Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.

Identification of deleterious mutations within three human genomes.

Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.

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118S-22S

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P31

scholarly article

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10.1177/0003489415575062

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P478

124 Suppl 1

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P50

Shin-Ya Nishio

P577

2015-03-16T00:00:00Z

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P5875

273700609

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P698

25780253

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Germinal mosaicism in a family with BO syndrome.

about

P2860

P2860

Germinal mosaicism in a family with BO syndrome.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P50

P577

P5875

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P50

P577

P5875

P698