Single allele mutations at the heart of congenital disease.
Rosenthal
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N
Harvey
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RP
D000483:Alleles; D000818:Animals; D004195:Disease Models, Animal; D029721:Drosophila Proteins; D005817:Genetic Counseling; D006321:Heart / Q000254:growth & development; D006330:Heart Defects, Congenital / Q000235:genetics*; D006579:Heterozygote; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D009154:Mutation; D012097:Repressor Proteins / Q000235:genetics; D015534:Trans-Activators / Q000235:genetics; D014157:Transcription Factors; D029867:Xenopus Proteins
D029721:Drosophila Proteins; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins; C095552:NKX2-5 protein, human; C484469:Nkx2-5 protein, mouse; D012097:Repressor Proteins; D015534:Trans-Activators; D014157:Transcription Factors; D029867:Xenopus Proteins; C102933:tin protein, Drosophila