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Updated: Sep 16, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

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评估SMARCB1变体分类和基因型-表型关系的断言在ClinVar中的一致性

Samarth Satish1, Matan Bone1, Deborah Ritter2

  • 1University of Manchester, Oxford Road, Manchester, M13 9PL, USA.

Cancer genetics
|July 5, 2025
PubMed
概括

致病性SMARCB1变体与斯万诺瘤,形瘤倾向综合征和棺材-西里斯综合征有关. 在ClinVar中不一致的报道阻碍了对这些门德尔乱的基因型-表型理解.

关键词:
棺材-西里斯综合征是什么?分子诊断是一种分子诊断.这种瘤是形状的瘤.在SMARCB1中,这种疾病叫做 Schwannomatosis.

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