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PubMed (cited) for id: 619178
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Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Am J Hum Genet. 2020 Dec 3;107(6):1078-1095. doi: 10.1016/j.ajhg.2020.11.002. Epub 2020 Nov 19.
Am J Hum Genet. 2020.
PMID: 33217308
Free PMC article.
Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy.
Dafsari HS, Kocaturk NM, Daimagüler HS, Brunn A, Dötsch J, Weis J, Deckert M, Cirak S.
Dafsari HS, et al.
Acta Neuropathol Commun. 2019 Dec 18;7(1):211. doi: 10.1186/s40478-019-0869-1.
Acta Neuropathol Commun. 2019.
PMID: 31852522
Free PMC article.
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