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Keywords: HBS1L
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Journal Articles
In collection:
Rare Disease Translational Research
Shiyu Luo, Bilal Alwattar, Qifei Li, Kiran Bora, Alexandra K. Blomfield, Jasmine Lin, Anne Fulton, Jing Chen, Pankaj B. Agrawal
Journal:
Disease Models & Mechanisms
Dis Model Mech (2024) 17 (8): dmm050557.
Published: 30 July 2024
... of ribosome-associated genes. This study focuses on the HBS1L gene, which encodes for the HBS1-like translational GTPase that is crucial for ribosomal rescue. We have reported a female child carrying biallelic HBS1L variants, manifesting with poor growth and neurodevelopmental delay. Here, we describe...
Includes: Supplementary data
