A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.

about

A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.

Item

http://www.wikidata.org/entity/Q52605212

description

2018 nî lūn-bûn

@nan

2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh-hant

name

A novel missense mutation in t ...... inant deafness: A case report.

@en

A novel missense mutation in t ...... inant deafness: A case report.

@nl

type

Item

label

A novel missense mutation in t ...... inant deafness: A case report.

@en

A novel missense mutation in t ...... inant deafness: A case report.

@nl

prefLabel

A novel missense mutation in t ...... inant deafness: A case report.

@en

A novel missense mutation in t ...... inant deafness: A case report.

@nl

P1476

A novel missense mutation in t ...... inant deafness: A case report.

@en

P2093

Hyun-Seok Jin

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

Jahyeon Jang

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

P2860

Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family

Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation.

A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS.

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.

Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

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.

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.

P304

7611-7617

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

P31

scholarly article

P356

10.3892/MMR.2018.8837

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

P433

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

P478

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

P50

Cha Gon Lee

P577

2018-03-29T00:00:00Z

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

P698

29620237

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

P932

5983957

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