16p11.2 distal deletion syndrome
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16p11.2 distal deletion syndrome is a rare genetic disorder (copy number variation) caused by a deletion on chromosome 16 in the range 28.74-28.95-Mb. The breakpoints in this pathway are chr16:28,823,196-29,046,783 (GHCh37) from Kendall et al. 2017 https://doi.org/10.1016/j.biopsych.2016.08.014.
16p11.2远端缺失综合征是一种罕见的遗传性疾病(拷贝数变异),由16号染色体28.74-28.95-Mb范围内的缺失引起。该通路中的断裂点为chr16:28,823,196-29,046,783(GHCh37),此数据由Kendall等人于2017年提供,参考文献:https://doi.org/10.1016/j.biopsych.2016.08.014。
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