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Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
Brain. 2024 Feb 15:awae046. doi: 10.1093/brain/awae046. Online ahead of print.
Brain. 2024.
PMID: 38366623
Errors in the interpretation of copy number variations due to the use of public databases as a reference.
Bastida-Lertxundi N, López-López E, Piñán MA, Puiggros A, Navajas A, Solé F, García-Orad A.
Bastida-Lertxundi N, et al.
Cancer Genet. 2014 Apr;207(4):164-7. doi: 10.1016/j.cancergen.2014.03.001. Epub 2014 Mar 14.
Cancer Genet. 2014.
PMID: 24767712
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