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A mutation can hide another one: Think Structural Variants!
Comput Struct Biotechnol J. 2020 Aug 2;18:2095-2099. doi: 10.1016/j.csbj.2020.07.021. eCollection 2020.
Comput Struct Biotechnol J. 2020.
PMID: 32832037
Free PMC article.
One Multilocus Genomic Variation Is Responsible for a Severe Charcot-Marie-Tooth Axonal Form.
Miressi F, Magdelaine C, Cintas P, Bourthoumieux S, Nizou A, Derouault P, Favreau F, Sturtz F, Faye PA, Lia AS.
Miressi F, et al. Among authors: bourthoumieux s.
Brain Sci. 2020 Dec 15;10(12):986. doi: 10.3390/brainsci10120986.
Brain Sci. 2020.
PMID: 33333791
Free PMC article.
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