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PMID:18076106

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Citation

Posch, MG, Perrot, A, Schmitt, K, Mittelhaus, S, Esenwein, EM, Stiller, B, Geier, C, Dietz, R, Gessner, R, Ozcelik, C and Berger, F (2008) Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects. Am. J. Med. Genet. A 146A:251-3

Abstract

No abstract in PubMed

Links

PubMed Online version:10.1002/ajmg.a.32042

Keywords

Bone Morphogenetic Protein 4; Bone Morphogenetic Proteins/genetics; Cell Adhesion Molecules/genetics; Extracellular Matrix Proteins/genetics; GATA4 Transcription Factor/genetics; Genetic Variation; Heart Septal Defects/genetics; Heart Septal Defects, Atrial/genetics; Homeodomain Proteins/genetics; Humans; Mutation; Transcription Factors/genetics

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:CREL1

involved_in

GO:0003279: cardiac septum development

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

HUMAN:CREL1

involved_in

GO:0003197: endocardial cushion development

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

HUMAN:BMP4

involved_in

GO:0003279: cardiac septum development

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete


See also

References

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