When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole‐exome sequencing
Abstract 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...
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| Format: | Article |
| Language: | English |
| Published: |
Springer Nature
2015-05-01
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| Series: | EMBO Molecular Medicine |
| Online Access: | https://doi.org/10.15252/emmm.201505307 |
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