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When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole-exome sequencing
Mutations in the XRCC4 gene have been recently identified through whole-exome sequencing (WES). While the overall clinical presentation of the patients (severe short stature, microcephaly, gonadal failure) generally conforms with what is expected for the defect of a critical non-homologous end-joini...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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John Wiley & Sons, Ltd
2015
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520652/ https://www.ncbi.nlm.nih.gov/pubmed/25962386 http://dx.doi.org/10.15252/emmm.201505307 |