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
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Hughes BG et al.
Scientific Reports, 2017
29255295 (PubMed )
Supplement: 41598_2017_17564_MOESM3_ESM.xlsx › COQ8a
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