Lessons learned from the DFNA37 gene discovery odyssey
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DOI: 10.1038/s41436-018-0395-8
Abstract: Despite significant advances in genetic technology, variant detection is still not as successful as it might be, even for cases and conditions that are clearly Mendelian. One way to increase the detection rate is by… read more here.
Keywords: dfna37 gene; col11a1; variant; gene ... See more keywords