Assessment of mutations in KCNN2 and ZNF135 to patient neurological symptoms
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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… read more here.
Keywords: znf135 patient; patient neurological; kcnn2 znf135; mutations kcnn2 ... See more keywords