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Published in 2020 at "Neurologia"
DOI: 10.1016/j.nrl.2020.04.010
Abstract: This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive…
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Keywords:
presentation sars;
manifestations unique;
unique presentation;
patient neurological ... See more keywords
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Published in 2017 at "NeuroReport"
DOI: 10.1097/wnr.0000000000000754
Abstract: Exome sequencing from a patient with neurological and developmental symptoms revealed two mutations in separate genes. One was a homozygous transition mutation that results in an in-frame, premature translational stop codon in the ZNF135 gene…
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Keywords:
znf135 patient;
patient neurological;
kcnn2 znf135;
mutations kcnn2 ... See more keywords