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Schwaibold, E.M.C.* ; Brugger, M.* ; Wagner, M.

A C-terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR-associated syndromic microphthalmia.

Clin. Genet. 100, 489-490 (2021)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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Publication type Article: Journal article
Document type Scientific Article
Language english
Publication Year 2021
HGF-reported in Year 2021
ISSN (print) / ISBN 0009-9163
e-ISSN 1399-0004
Quellenangaben Volume: 100, Issue: 4, Pages: 489-490 Article Number: , Supplement: ,
Publisher Wiley
Publishing Place 111 River St, Hoboken 07030-5774, Nj Usa
Reviewing status Peer reviewed
POF-Topic(s) 30205 - Bioengineering and Digital Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-503200-001
Scopus ID 85111245935
PubMed ID 34313322
Erfassungsdatum 2021-08-04