Associated Papers
Functional analysis of XRCC4 mutations in reported microcephaly and growth defect patients in terms of radiosensitivity.
Asa ADDC et al.
Journal of Radiation Research, 2021
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.
Lhota F et al.
Clinical Genetics, 2016
Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.
Saito S et al.
Journal of Human Genetics, 2016
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
Rosin N et al.
Human Molecular Genetics, 2015
Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
Murray JE et al.
American Journal of Human Genetics, 2015
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