Varaico: Literature-Extracted Genetic Variants

Gene:GSDME
Variant:p.V330_C331Splc
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GSDME

NM_001127453.2:p.V330_C331Splc

Associated Papers

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

Sun Q et al.

Zhonghua Yi Xue Za Zhi, 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

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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."