Matches in Nanopublications for { ?s ?p "[De novo mutation of the CHD7 gene is a major cause of CHARGE syndrome, a genetic disease characterized by a complex constellation of birth defects (Coloboma of the eye, Heart defects, Atresia of the choanae, severe Retardation of growth and development, Genital abnormalities, and Ear abnormalities).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP404727.RAiVOqfsmsNhnbmMr2A5AJwIx3-aHIeSlEx8LSaNxGgkk130_assertion description "[De novo mutation of the CHD7 gene is a major cause of CHARGE syndrome, a genetic disease characterized by a complex constellation of birth defects (Coloboma of the eye, Heart defects, Atresia of the choanae, severe Retardation of growth and development, Genital abnormalities, and Ear abnormalities).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP404727.RAiVOqfsmsNhnbmMr2A5AJwIx3-aHIeSlEx8LSaNxGgkk130_provenance.
- NP421784.RAWK35L4FzwzRDAVa7s6cSLc7EP-UHndLyftDdWJpbgOw130_assertion description "[De novo mutation of the CHD7 gene is a major cause of CHARGE syndrome, a genetic disease characterized by a complex constellation of birth defects (Coloboma of the eye, Heart defects, Atresia of the choanae, severe Retardation of growth and development, Genital abnormalities, and Ear abnormalities).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP421784.RAWK35L4FzwzRDAVa7s6cSLc7EP-UHndLyftDdWJpbgOw130_provenance.
- NP723201.RA6he8ZYKfLcfK1f3T3MjeW-u686xKZKTcHqgQAAf6xR0130_assertion description "[De novo mutation of the CHD7 gene is a major cause of CHARGE syndrome, a genetic disease characterized by a complex constellation of birth defects (Coloboma of the eye, Heart defects, Atresia of the choanae, severe Retardation of growth and development, Genital abnormalities, and Ear abnormalities).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP723201.RA6he8ZYKfLcfK1f3T3MjeW-u686xKZKTcHqgQAAf6xR0130_provenance.
- assertion description "[De novo mutation of the CHD7 gene is a major cause of CHARGE syndrome, a genetic disease characterized by a complex constellation of birth defects (Coloboma of the eye, Heart defects, Atresia of the choanae, severe Retardation of growth and development, Genital abnormalities, and Ear abnormalities).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[De novo mutation of the CHD7 gene is a major cause of CHARGE syndrome, a genetic disease characterized by a complex constellation of birth defects (Coloboma of the eye, Heart defects, Atresia of the choanae, severe Retardation of growth and development, Genital abnormalities, and Ear abnormalities).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP919663.RAPfC10NqwgVtvwZHdExJR8tg8IekFk5NXDwIvtG3hldU130_assertion description "[De novo mutation of the CHD7 gene is a major cause of CHARGE syndrome, a genetic disease characterized by a complex constellation of birth defects (Coloboma of the eye, Heart defects, Atresia of the choanae, severe Retardation of growth and development, Genital abnormalities, and Ear abnormalities).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP919663.RAPfC10NqwgVtvwZHdExJR8tg8IekFk5NXDwIvtG3hldU130_provenance.
- NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_assertion description "[De novo mutation of the CHD7 gene is a major cause of CHARGE syndrome, a genetic disease characterized by a complex constellation of birth defects (Coloboma of the eye, Heart defects, Atresia of the choanae, severe Retardation of growth and development, Genital abnormalities, and Ear abnormalities).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_provenance.