Varaico: Literature-Extracted Genetic Variants

Gene:MNAT1
Variant:p.R75W
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MNAT1

NM_002431.4:p.R75W

Associated Papers

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

Yuan Y et al.

Journal of Translational Medicine, 2009

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.

Rabionet R et al.

Human Mutation, 2000

Connexins: a connection with the skin.

Richard G

Experimental Dermatology, 2000

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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."