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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

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Year: 2012
Type: article
Study design: Observational Study
Source: European Journal of Human Genetics
DOI: 10.1038/ejhg.2012.6
Authors: 1q21.1 Study Group, Jill A Rosenfeld, Ryan N Traylor, G Bradley Schaefer, Elizabeth W McPherson, Blake C Ballif, Eva Klopocki, Stefan Mundlos, Lisa G Shaffer, Arthur S Aylsworth
Institutions: PerkinElmer (United States), University of Arkansas for Medical Sciences, Marshfield Clinic, Marshfield Clinic, Charité – Universitätsmedizin Berlin, University of North Carolina at Chapel Hill
Language: English

Topic: Genomic variations and chromosomal abnormalities
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: bronze

Funder: University of Washington
OpenAlex ID: W2113021936
FWCI: 3.944
Cites: 57
Cited by: 133
Related to: 10
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