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References from A case report of Indian siblings with short stature due to novel variant in the CEP57 gene, causing Mosaic Variegated Aneuploidy Syndrome Type 2 and review of the phenotype of related patients. Local targets link to admitted publications; unresolved targets remain external evidence.
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10.1016/j.ejmg.2021.104338
10.1016/j.ejmg.2021.104338 · 2021 · External reference
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10.1111/cge.14297 · 2023 · External reference
10.1016/j.ejmg.2020.104044
10.1016/j.ejmg.2020.104044 · 2020 · External reference
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10.1172/jci120316 · 2018 · External reference
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10.1002/ajmg.a.36166 · 2014 · External reference
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10.1002/mgg3.1064 · 2020 · External reference
10.1016/j.ejmg.2018.07.013
10.1016/j.ejmg.2018.07.013 · 2019 · External reference
10.1002/mgg3.1951
10.1002/mgg3.1951 · 2022 · External reference
10.1002/ccr3.1655
10.1002/ccr3.1655 · 2018 · External reference