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Haploinsufficiency
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Concept in genetics
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Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot
article
Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome
scientific article
Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression
Bilateral semilunar valve disease in a child with partial deletion of the Williams-Beuren syndrome region is associated with elastin haploinsufficiency
scientific article published on 01 May 2006
PDX-1 haploinsufficiency limits the compensatory islet hyperplasia that occurs in response to insulin resistance
scientific article published in September 2004
Genomic alterations in histopathologically normal breast tissue from BRCA1 mutation carriers may be caused by BRCA1 haploinsufficiency
scientific article published on 01 January 2010
Haploinsufficiency of Flap endonuclease (Fen1) leads to rapid tumor progression
scientific article
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects
scientific article published on 25 May 2007
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Haploinsufficiency in genetics describes a model of dominant gene action in diploid organisms, in which a single copy of the wild-type allele at a locus in heterozygous combination with a variant allele is insufficient to produce the wild-type phenotype. Haploinsufficiency may arise from a de novo or inherited loss-of-function mutation in the...

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