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Disruptive CHD8 mutations define a subtype of auti. Multiplex targeted sequencing identifies recurrent. Science. 2013 Jan. Disruptive CHD8 mutations define a subtype of autism early in development. Cell 2014 Jul; (0): . doi: 10.1016/j.cell.2014.06.017. PMID: 24998929. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science. 2013 Jan; 338 (6114): 1619-22. doi: 10.1126. PMID: 23160955. Cell 2012 Jun; 149 (3): 525-37. doi: 10.1016. PMID: 22521361. CHD8 intera...
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Disruptive CHD8 mutations define a subtype of auti. Multiplex targeted sequencing identifies recurrent. Science. 2013 Jan. Sites/organizations providing information on. NCBI: http:/ www.ncbi.nlm.nih.gov/gene? UniProt: http:/ www.uniprot.org/uniprot/Q9HCK8. SFARIGene: https:/ gene.sfari.org/GeneDetail/CHD8. GeneCards: http:/ www.genecards.org/cgi-bin/carddisp.pl? Desgined by Easy-Changer.Com.
General information
https://chd8.org/general-information.html
Disruptive CHD8 mutations define a subtype of auti. Multiplex targeted sequencing identifies recurrent. Science. 2013 Jan. See Clinical features for the frequency of the clinical findings in. Fifteen cases of recurrent truncating mutations of. Most truncating mutations in. For which inheritance could be determined were de novo events events that occur on their own without being inherited from a parent. Thus far for those inherited. Mutations, the parents with the mutation have demonstrated a range of beh...
Clinical features
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Disruptive CHD8 mutations define a subtype of auti. Multiplex targeted sequencing identifies recurrent. Science. 2013 Jan. The most frequent clinical features in. Autism Spectrum Disorder: 87%. Major clinical findings in. Autism Spectrum Disorder: 87%. Respiratory System Problems: 13%. Precocious Puberty: 100% (in females). Frequency of the clinical findings in CHD8 mutations ordered by frequency. Or ordered by groups of features. Precocious Puberty (in females). Desgined by Easy-Changer.Com.
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Disruptive CHD8 mutations define a subtype of auti. Multiplex targeted sequencing identifies recurrent. Science. 2013 Jan. Severe disruptive mutations in chromodomain helicase DNA binding protein 8 (CHD8) have been identified in individuals with autism spectrum disorder (ASD) and are considered a likely candidate for a subtype of ASD. CHD8, located on chromosome 14q11.2, binds to beta-catenin and is involved in chromatin modeling and transcription. Desgined by Easy-Changer.Com.
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