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Mutations in SIX1 Associated with Branchio-oto-Renal Syndrome (BOR) Differentially Affect Otic Expression of Putative Target Genes

Several single-nucleotide mutations in SIX1 underlie branchio-otic/branchio-oto-renal (BOR) syndrome, but the clinical literature has not been able to correlate different variants with specific phenotypes. We previously assessed whether variants in either the cofactor binding domain (V17E, R110W) or...

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Podrobná bibliografie
Vydáno v:J Dev Biol
Hlavní autoři: Mehdizadeh, Tanya, Majumdar, Himani D., Ahsan, Sarah, Tavares, Andre L. P., Moody, Sally A.
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2021
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8293042/
https://ncbi.nlm.nih.gov/pubmed/34208995
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jdb9030025
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