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Published in 2017 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2017.06.011
Abstract: Interpretation of variants of uncertain significance, especially chromosomal rearrangements in non-coding regions of the human genome, remains one of the biggest challenges in modern molecular diagnosis. To improve our understanding and interpretation of such variants,…
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Keywords:
position effects;
position;
apparently balanced;
chromosomal rearrangements ... See more keywords