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Updated: Feb 4, 2026

Genetic Variant Detection in the CALR gene using High Resolution Melting Analysis
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Published on: August 26, 2020

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通过RNA测试和神经纤维瘤瘤中受影响组织分析解决变异:一系列病例

Krista S Schatz1, Carolyn D Applegate1, Allan J Belzberg2

  • 1Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.

Neurology. Genetics
|February 3, 2026
PubMed
概括

RNA测试和组织分析在3名患有神经纤维素瘤1型和神经纤维素瘤特征的患者中解决了具有不确定的意义的变异. 这些测试澄清了诊断,影响了临床护理,并证实了一名患者的诊断.

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