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Updated: May 3, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

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细菌线异体SH2B3 p.Glu78Lys变体:一个三名患有骨髓增殖性新生瘤的患者病例系列

Giovanni Iaquinta1, Alessandro Laganà2, Anna Tamburini3

  • 1U.O.C. Medical Genetics Laboratory, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

Experimental hematology
|December 1, 2025
PubMed
概括

一种罕见的生殖系SH2B3变体可能会使个体易患髓增殖性瘤 (MPN). 在MPN患者中发现了这种低透率的变体,这表明它可能在疾病发展中发挥作用.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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相关概念视频

Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
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