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Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood |
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Titel: |
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood |
Auteur: |
Edvardson, Simon Nicolae, Claudia M. Agrawal, Pankaj B. Mignot, Cyril Payne, Katelyn Prasad, Asuri Narayan Prasad, Chitra Sadler, Laurie Nava, Caroline Mullen, Thomas E. Begtrup, Amber Baskin, Berivan Powis, Zöe Shaag, Avraham Keren, Boris Moldovan, George-Lucian Elpeleg, Orly |
Verschenen in: |
The American journal of human genetics |
Paginering: |
Jaargang 101 (2017) nr. 2 pagina's 267-273 |
Jaar: |
2017 |
Inhoud: |
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Uitgever: |
American Society of Human Genetics |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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