A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease is a research paper published in American Journal of Medical Genetics Part A (2020). On theSindex it has a DataRank of 0. It has been cited 8 times.
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Intramural NIH HHS
Grant: Z99 HG999999
Intramural Research Program of the National Human Genome Research Institute
Common Fund of the NIH Office of the Director of the National Institutes of Health
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