WP4932 - 7q11.23 copy number variation syndrome - Homo sapiens
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7q11.23 copy number variation syndrome (MIM 609757, also called Williams-Beuren region duplication syndrome, WBS duplication syndrome, Chromosome 7q11.23 duplication syndrome, or Somerville-van-der-Aa syndrome) is a copy number variation syndrome with a duplication in the region chr7:72,744,454-74,142,513 (GRCh37/hg19). The breakpoint is defined from Carolyn B Mervis 7q11.23 Duplication Syndrome in Gene Reviews PMID: 20301295.
创建时间:
2025-04-17



