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Updated: Jun 12, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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与RECQL4相关的综合征的非典型表现

Liron D Grossman1,2, Sarah Baldino2, Kristin Zelley2

  • 1Division of Hematology-Oncology, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.

Pediatric blood & cancer
|September 24, 2024
PubMed
概括

与RECQL4相关的综合征,罕见的癌症倾向障碍,由于异常表现可能会错过. 早期识别这些RECQL4基因突变对于癌症监测至关重要,即使没有经典症状.

关键词:
第四十四章 记忆罗斯蒙德·普森综合征 (Rothmund Thompson 综合征) 是一种骨质肉瘤是骨质肉瘤的一种疾病.

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