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Journal Articles

Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT

Maria E. Bernabéu-Herrero, Dilipkumar Patel, Adrianna Bielowka, JiaYi Zhu, Kinshuk Jain, Ian S. Mackay, Patricia Chaves Guerrero, Giulia Emanuelli, Luca Jovine, Michela Noseda, Stefan J. Marciniak, Micheala A. Aldred, Claire L. Shovlin

Blood (2024) 143 (22): 2314–2331.

https://doi.org/10.1182/blood.2023021777

Published: 2024

Includes: Supplemental data