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Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2‐1‐Related Disorder

Francesca Magrinelli,Clarissa Rocca,Roberto Simone,Riccardo Zenezini Chiozzi,Zane Jaunmuktane,Niccolo E. Mencacci,Michele Tinazzi,Sandeep Jayawant,Andrea H. H. Nemeth,German Demidov,Henry Houlden, Kailash P. P. Bhatia

MOVEMENT DISORDERS（2023）

引用 8|浏览64
关键词
brain-lung-thyroid syndrome,chorea,dystonia,mobile element insertion,thyroid transcription factor-1
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