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Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants.
Front Physiol. 2020 Jan 22;10:1612. doi: 10.3389/fphys.2019.01612. eCollection 2019.
Front Physiol. 2020.
PMID: 32038292
Free PMC article.
A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.
Jeffries L, Shima H, Ji W, Panisello-Manterola D, McGrath J, Bird LM, Konstantino M, Narumi S, Lakhani S.
Jeffries L, et al. Among authors: panisello manterola d.
Am J Med Genet A. 2018 Feb;176(2):415-420. doi: 10.1002/ajmg.a.38557. Epub 2017 Dec 21.
Am J Med Genet A. 2018.
PMID: 29266745
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