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Weronika A Buczek
ORCID
Publication Activity (10 Years)
Years Active: 2020-2020
Publications (10 Years): 1
Top Topics
Intellectual Disability
Copy Number
Saccharomyces Cerevisiae
Protein Protein
Top Venues
Human mutation
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This page only lists publications with an associated author ORCID identifier.
Publications
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Huw B Thomas
,
Katherine A Wood
,
Weronika A Buczek
,
Christopher T Gordon
,
Véronique Pingault
,
Tania Attie-Bitach
,
Kathryn E Hentges
,
Vinod C Varghese
,
Jeanne Amiel
,
William G Newman
,
Raymond T O'Keefe
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.
Human mutation
41 (8) (2020)