The first was biallelic loss at 8p11.22 (9/28, 32%), a region encoding ADAM metalloproteinase domains 3A, 5, and 18. The second was ... gain at 1p13.3 (6/28, 21%), corresponding to genes for glutathione-S ... transferase theta at 22q11.23 (8/28, 29%). Conclusions: Our results support the concept that ... were queried against gnomAD, only 30% of all germline variants in our
https://www.amp.org/AMP/assets/File/awards/young_investigator/YIA18_WinningAbstr...