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从GAA变体的特征预测庞培病的表型

Geetanjali Rajamani1, Nishitha R Pillai2, Seth A Stafki3,4

  • 1Medical School, University of Minnesota, Minneapolis, MN, USA.

European journal of human genetics : EJHG
|January 8, 2025
PubMed
概括

预测庞培病表型对于管理至关重要. GAA基因中的特定遗传变异,如拼接变异或某些领域的变异,可以帮助预测婴儿发病的庞培病 (IOPD) 或晚发病的庞培病 (LOPD).

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