Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G > A and c.8147T > C mutations

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Publication year
2019Source
Journal of Medical Genetics, 56, 5, (2019), pp. 308-316ISSN
Publication type
Article / Letter to editor

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Organization
Paediatrics
Neurology
Internal Medicine
Health Evidence
Journal title
Journal of Medical Genetics
Volume
vol. 56
Issue
iss. 5
Page start
p. 308
Page end
p. 316
Subject
All institutes and research themes of the Radboud University Medical Center; Radboudumc 10: Reconstructive and regenerative medicine RIHS: Radboud Institute for Health Sciences; Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience; Radboudumc 4: lnfectious Diseases and Global Health RIMLS: Radboud Institute for Molecular Life SciencesThis item appears in the following Collection(s)
- Academic publications [227902]
- Electronic publications [107427]
- Faculty of Medical Sciences [86234]
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