A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome
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Date
Journal Title
Journal ISSN
Volume Title
dc.identifier.issn
dc.identifier.doi
10.1111/cge.14105
dc.identifier.other
WOS:000739907100001
dc.description.volume
dc.description.issue
Publisher
WILEY
DOI
10.1111/cge.14105