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2001 | 1 |
2012 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 124093
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Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.
Am J Hum Genet. 2012 Aug 10;91(2):365-71. doi: 10.1016/j.ajhg.2012.06.012. Epub 2012 Jul 19.
Am J Hum Genet. 2012.
PMID: 22818856
Free PMC article.
Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.
Daniels RJ, Peden JF, Lloyd C, Horsley SW, Clark K, Tufarelli C, Kearney L, Buckle VJ, Doggett NA, Flint J, Higgs DR.
Daniels RJ, et al.
Hum Mol Genet. 2001 Feb 15;10(4):339-52. doi: 10.1093/hmg/10.4.339.
Hum Mol Genet. 2001.
PMID: 11157797
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