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2017 | 1 |
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PubMed (GeneRIF) for id: 94104
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A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia.
Clin Genet. 2017 Dec;92(6):579-586. doi: 10.1111/cge.13051. Epub 2017 Sep 15.
Clin Genet. 2017.
PMID: 28542722
Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters.
Warnatz HJ, Querfurth R, Guerasimova A, Cheng X, Haas SA, Hufton AL, Manke T, Vanhecke D, Nietfeld W, Vingron M, Janitz M, Lehrach H, Yaspo ML.
Warnatz HJ, et al.
Nucleic Acids Res. 2010 Oct;38(18):6112-23. doi: 10.1093/nar/gkq402. Epub 2010 May 21.
Nucleic Acids Res. 2010.
PMID: 20494980
Free PMC article.
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