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Q33770872-553A04F3-728A-480C-8E5E-228CBD3F80F5
Q33770872-553A04F3-728A-480C-8E5E-228CBD3F80F5
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http://www.wikidata.org/entity/statement/Q33770872-553A04F3-728A-480C-8E5E-228CBD3F80F5
A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion
P2860
Q33770872-553A04F3-728A-480C-8E5E-228CBD3F80F5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33770872-553A04F3-728A-480C-8E5E-228CBD3F80F5
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87b822f05ff4fe03af36bc8c5fe34d4eda23d7a2
P2860
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome