A novel spliceosomopathy caused by de novo SF3B3 variants.

Genome medicine
Authors
Luciana Musante
Pavel Janos
Giulia Pianigiani
Sara Cappelli
Alessandra Longo
Carolina Alves
Eva Schwaibold
Matias Wagner
Gregory Costain
Run Fridriksdottir
Kari Stefansson
Patrick Sulem
Klaske Lichtenbelt
Ellen van Binsbergen
Richard van Jaarsveld
Alfredo Brusco
Lisa Pavinato
Elisa Biamino
Alessandra Spano
Clara Hildebrandt
Yee-Ming Chan
Emily Groopman
Michal Berkenstadt
Daniel Koboldt
Rachel Williamson
Han Brunner
Lisenka Vissers
Pernille Torring
Qin Hao
Bruce Gelb
Elizabeth Goldmuntz
Kristen Reed
Emma Bedoukian
Davide Vecchio
Emanuela Salzano
Maria Piccione
Caterina Zanus
Catia Mio
Evan Eichler
Tianyun Wang
Wesley Patterson
Kameryn Butler
Mattie Piotrowski
Sandra Mercier
Benjamin Cogné
Ingrid Wentzensen
Emanuele Buratti
Alessandra Magistrato
Flavio Faletra
Keywords
De novo
SF3B3
All-atom simulation
RNA sequencing
SF3b complex
Spliceosomopathy
Year of Publication
2026
Journal
Genome medicine
Date Published
02/2026
ISSN
1756-994X
DOI
10.1186/s13073-026-01610-4
PubMed ID
41709284
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