Varaico: Literature-Extracted Genetic Variants

Gene:MINAR2
Variant:p.S54A
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MINAR2

NM_001257308.2:p.S54A

Associated Papers

A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.

Jang MW et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34050020 (PubMed )
Supplement: pnas.2019681118.sapp.pdf
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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."