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注意：仅列出部分参考文献，下载原文获取全部文献信息。Two percent of patients suspected of having Angelman syndrome have TCF4 mutations
K. Takano et al.
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Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
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Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array
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Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction
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