OTUD6B c.141A>G ;(p.Q47=)

Variant ID: 8-92082663-A-G

NM_016023.3(OTUD6B):c.141A>G;(p.Q47=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: N/A
PubMed Link: 32313182
Variant Present in the following documents:
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: N/A
PubMed Link: 28690861
Variant Present in the following documents:
View BVdb publication page