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CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome - Pinson - 2014 - American Journal of Medical Genetics Part A - Wiley Online Library
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Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility | Science Advances
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Losing balance: the origin and impact of aneuploidy in cancer: 'Exploring aneuploidy: the significance of chromosomal imbalance' review series: EMBO reports: Vol 13, No 6
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CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome - Pinson - 2014 - American Journal of Medical Genetics Part A - Wiley Online Library
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JCI - BubR1 allelic effects drive phenotypic heterogeneity in mosaic-variegated aneuploidy progeria syndrome
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Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype - ScienceDirect
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Role of chromosomal instability in cancer progression in: Endocrine-Related Cancer Volume 24 Issue 9 (2017)
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Losing balance: the origin and impact of aneuploidy in cancer: 'Exploring aneuploidy: the significance of chromosomal imbalance' review series: EMBO reports: Vol 13, No 6
BubR1 allelic effects drive phenotypic heterogeneity in mosaic-variegated aneuploidy progeria syndrome
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