WP4657 - 22q11.2 copy number variation syndrome - Homo sapiens
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The 22q11.2 deletion syndrome can result in the loss of up to 46 protein-coding genes, which have wide-spread effects on human development. The loss of TBX1 is thought to be responsible for a large proportion of the 22q11.2DS phenotype, due its role in the development of the heart, thymus, thyroid, parathyroids and more.
创建时间：
2025-04-17
