A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

scientific article published on December 2016

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1007282978
P356DOI10.1038/EJHG.2016.112
P932PMC publication ID5117917
P698PubMed publication ID27834362

P50authorTammy GillisQ67217971
Diane LucenteQ114336880
James F. GusellaQ1602688
P2093author name stringJonathan D Picker
Ali Fatemi
Lance H Rodan
Julie Cohen
P433issue12
P921main subjectheterozygosityQ124059385
neurodevelopmental disorderQ3450985
P304page(s)1833
P577publication date2016-12-01
P1433published inEuropean Journal of Human GeneticsQ2155433
P1476titleA novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene
P478volume24

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cites work (P2860)
Q60912893Antagonistic pleiotropy in mice carrying a CAG repeat expansion in the range causing Huntington's disease
Q38612630Haplotype-based stratification of Huntington's disease
Q45305579Suppression of MAPK11 or HIPK3 reduces mutant Huntingtin levels in Huntington's disease models

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