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Title:

Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia

Document type:
Zeitschriftenaufsatz
Author(s):
Shalash, Ali S.; Rösler, Thomas W.; Salama, Mohamed; Pendziwiat, Manuela; Müller, Stefanie H.; Hopfner, Franziska; Höglinger, Günter U.; Kuhlenbäumer, Gregor
Journal title:
neurogenetics
Year:
2021
Journal volume:
22
Journal issue:
2
Pages contribution:
143-147
Fulltext / DOI:
doi:10.1007/s10048-021-00639-4
Publisher:
Springer Science and Business Media LLC
E-ISSN:
1364-67451364-6753
Date of publication:
29.03.2021
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