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DEAFNESS, AUTOSOMAL RECESSIVE 31

Known as: DFNB31, Whirler, Mouse, Homolog Of 
National Institutes of Health

Related topics

Related topics

3 relations
Autosomal recessive inheritanceDFNB31 gene

Broader (1)

Sensorineural Hearing Loss (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Insights on Impact of Missense SNPs of Human USH2A associated with Usher Syndrome II
Usher syndrome, also known as Hallgren syndrome, is an extremely rare genetic disorder caused by a mutation in any one of at… 
2016
2016
Molecular studies of phenotype variation in canine RPGR-XLPRA1
Purpose Canine X-linked progressive retinal atrophy 1 (XLPRA1) caused by a mutation in retinitis pigmentosa (RP) GTPase regulator… 
2015
2015
A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31-deficient patients.
The DFNB31 gene plays an indispensable role in the cochlea and retina. Mutations in this gene disrupt its various isoforms and… 
2013
2013
Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A
Variants in the head and tail domains of the MYO7A gene, encoding myosin VIIA, cause Usher syndrome type 1B (USH1B) and… 
2003
2003
Stereocilia: the long and the short of it.
2002
2002
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34
We report the identification of a novel locus responsible for an autosomal recessive form of hearing loss (DFNB) segregating in a… 
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