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Literature DB >> 29357087

A novel de novo mutation of ACTG1 in two sporadic non-syndromic hearing loss cases.

Hongyang Wang¹, Jing Guan¹, Lan Lan¹, Lan Yu¹, Linyi Xie¹, Xu Liu², Ju Yang¹, Cui Zhao¹, Dayong Wang¹, Qiuju Wang³.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2018 PMID： 29357087 DOI： 10.1007/s11427-017-9165-2

Source DB: PubMed Journal: Sci China Life Sci ISSN： 1674-7305 Impact factor: 6.038

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1. De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.

Authors: Mateusz Dawidziuk; Anna Kutkowska-Kazmierczak; Ewelina Bukowska-Olech; Marta Jurek; Ewa Kalka; Dorothy Lys Guilbride; Mariusz Ireneusz Furmanek; Monika Bekiesinska-Figatowska; Jerzy Bal; Pawel Gawlinski
Journal: Int J Mol Sci Date: 2022-01-08 Impact factor: 5.923

1 in total