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Quoted phrase not found in phrase index: "Hearing loss, autosomal dominant 83"
Page 1
Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.
Biomed Res Int. 2021 Mar 4;2021:6624744. doi: 10.1155/2021/6624744. eCollection 2021.
Biomed Res Int. 2021.
PMID: 34258273
Free PMC article.
OBJECTIVE: Genetic variants in the WFS1 gene can cause Wolfram syndrome (WS) or autosomal dominant nonsyndromic low-frequency hearing loss (HL). This study is aimed at investigating the molecular basis of HL in an affected Chinese family and the genoty …
OBJECTIVE: Genetic variants in the WFS1 gene can cause Wolfram syndrome (WS) or autosomal dominant nonsyndromic low-frequency …
High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL).
Minárik G, Ferák V, Feráková E, Ficek A, Poláková H, Kádasi L.
Minárik G, et al.
Gen Physiol Biophys. 2003 Dec;22(4):549-56.
Gen Physiol Biophys. 2003.
PMID: 15113126
Free article.
Clinical Trial.
Mutations in the GJB2 gene (connexin 26) represent a major cause of autosomal recessive non-syndromic hearing loss (NSHL) worldwide. In most Caucasian populations, the 35delG mutation in this gene was found to account for up to 50% of cases of the genetic non …
Mutations in the GJB2 gene (connexin 26) represent a major cause of autosomal recessive non-syndromic hearing loss (NSH …
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