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Updated: May 12, 2026

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Published on: April 4, 2018

与马方综合征相关的FBN1变异的解释和分类:临床基因组资源的FBN1变异治愈专家小组的共识建议

A Drackley1, C Somerville2, P Arnaud3,4

  • 1Department of Pathology & Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.

Genome medicine
|December 31, 2024
PubMed
概括

对FBN1基因变异的新指导方针改善了马方综合征的诊断. 这些基因特异性适应美国医学遗传学和基因组学学院 (ACMG) 和分子病理学协会 (AMP) 标准,提高了变体分类一致性.

关键词:
FBN1 FBN1 的意思是什么?在ACMG-AMP指南中.马芬综合征是什么意思 马芬综合征是什么意思变体策划 变体策划变体解释的变体解释

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