A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families.

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A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families.

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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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2018年学术文章

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A Novel p.G141R Mutation in IL ...... 2 in Two Chinese Han Families.

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A Novel p.G141R Mutation in IL ...... 2 in Two Chinese Han Families.

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A Novel p.G141R Mutation in IL ...... 2 in Two Chinese Han Families.

@en

A Novel p.G141R Mutation in IL ...... 2 in Two Chinese Han Families.

@nl

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A Novel p.G141R Mutation in IL ...... 2 in Two Chinese Han Families.

@en

A Novel p.G141R Mutation in IL ...... 2 in Two Chinese Han Families.

@nl

P1476

A Novel p.G141R Mutation in IL ...... 2 in Two Chinese Han Families.

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P2093

Hao Wu

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Hu Peng

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

Longhao Wang

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Tao Yang

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Xueling Wang

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P2860

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

A method and server for predicting damaging missense mutations

Positional cloning of "Lisch-Like", a candidate modifier of susceptibility to type 2 diabetes in mice

Deficiency of angulin-2/ILDR1, a tricellular tight junction-associated membrane protein, causes deafness with cochlear hair cell degeneration in mice

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

ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain

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7272308

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scholarly article

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10.1155/2018/7272308

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2018

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2018-04-16T00:00:00Z

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29849566

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5926476

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