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Updated: Feb 13, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

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神経発達障害における規制要素のデノボ変異

Patrick J Short1, Jeremy F McRae1, Giuseppe Gallone1

  • 1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

Nature
|March 22, 2018
PubMed
まとめ

特に胎児の脳活性領域における新しい変異は 神経発達障害の重要な原因である. この研究では,コード化変種がない患者での貢献度が推定されています.

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