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Updated: Jul 9, 2025

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

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Published on: August 20, 2019

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SMAD4变异及其基因型-表型与青少年多重症综合征的相关性

Kimberley Cao1,2, John-Paul Plazzer3, Finlay Macrae3,4

  • 1Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Parkville, VIC, Australia. kimberley.cao@mh.org.au.

Hereditary cancer in clinical practice
|December 9, 2023
PubMed
概括

与SMAD4基因变异相关的青少年多发症综合征 (JPS),特别是在MH2区域,表明胃肠癌和结肠外表现的风险更高. 早期和频繁的内镜查对受影响的个体至关重要.

关键词:
基因分析 基因分析基因型表型相关性相关性青少年多发症综合征是什么这是一种SMAD4蛋白质.

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