coiled-coil domain-containing protein 78 isoform X8 [Homo sapiens]

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The Influence of a Genetic Variant in CCDC78 on LMNA-Associated Skeletal Muscle Disease. [Int J Mol Sci. 2024]
The Influence of a Genetic Variant in CCDC78 on LMNA-Associated Skeletal Muscle Disease.
Mohar NP, Cox EM, Adelizzi E, Moore SA, Mathews KD, Darbro BW, Wallrath LL. Int J Mol Sci. 2024 Apr 30; 25(9). Epub 2024 Apr 30.
Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. [Am J Hum Genet. 2012]
Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.
Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X, Joshi S, Xu J, Peng W, Beggs AH, et al. Am J Hum Genet. 2012 Aug 10; 91(2):365-71. Epub 2012 Jul 19.
Deuterosome-mediated centriole biogenesis. [Dev Cell. 2013]
Deuterosome-mediated centriole biogenesis.
Klos Dehring DA, Vladar EK, Werner ME, Mitchell JW, Hwang P, Mitchell BJ. Dev Cell. 2013 Oct 14; 27(1):103-12. Epub 2013 Sep 26.

RefSeq genomic sequence
See the genomic reference sequence for the CCDC78 gene (NG_032932.1).
RefSeq mRNA
See reference mRNA sequence for the CCDC78 gene (XM_011522362.2).
RefSeq protein isoforms
See 51 reference sequence protein isoforms for the CCDC78 gene.

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Protein