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在癌症中的DNA损伤修复基因中识别致病性误解突变的AlphaMissense

Shu Yazaki1, Xin Pei1, Simon Powell1

  • 1Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York, NY.

JCO precision oncology
|June 26, 2025
PubMed
概括

AlphaMissense准确地识别出新的致病性DNA损伤修复 (DDR) 基因突变,帮助癌症研究. 然而,它的临床实用性需要基因特异性验证和进一步的功能研究.

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