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Updated: Sep 9, 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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中国人のBVSYS患者におけるMED25遺伝子の新化合物ヘテロジゴス変異の病原性作用を解明

Linbing Zou1, Ruikang Qiu2, Zhijun Dai1

  • 1Hefei Maternal and Child Health Hospital Reproductive Medicine Center, Hefei, China.

Frontiers in genetics
|September 5, 2025
PubMed
まとめ

MED25遺伝子における複合性ヘテロジゴス変異は,mRNA前スプライシングを損なうことで,バゼル・ヴァナガイト・スミリン・ヨセフ症候群 (BVSYS) を引き起こします. この研究は,MED25に関連した知的障害と発達障害の背後にある分子メカニズムを明らかにしています.

キーワード:
メド25c.1965+1dupc.670C>G (p.R224G) について複合性ヘテロジゴス変異遺伝子スプライシングアッセイ全エクソームシーケンシング (WES)

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