Varaico: Literature-Extracted Genetic Variants

Gene:GSDME
Variant:p.A214insFs
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GSDME

NM_001127453.2:p.A214insFs

Associated Papers

Further evidence for "gain-of-function" mechanism of DFNA5 related hearing loss.

Wang H et al.

Scientific Reports, 2018

IVS8+1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family.

Li-Yang MN et al.

Chinese Medical Journal, 2015

A novel splice site mutation in DFNA5 causes late-onset progressive non-syndromic hearing loss in a Chinese family.

Chai Y et al.

International Journal of Pediatric Otorhinolaryngology, 2014

[Molecular etiology of non-syndromic hearing impairment in a Chinese family].

Sun Q et al.

Zhonghua Yi Xue Za Zhi, 2009

The genetic bases for non-syndromic hearing loss among Chinese.

Ouyang XM et al.

Journal of Human Genetics, 2009

A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family.

Cheng J et al.

Clinical Genetics, 2007

[Molecular genetic analysis of mitochondrial DNA C1494T mutation in non-syndromic hearing loss of Chinese population].

Tian G et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007

A novel DFNA5 mutation does not cause hearing loss in an Iranian family.

Van Laer L et al.

Journal of Human Genetics, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."