Associated Papers
HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells.
Luo S et al.
Disease Models & Mechanisms, 2024
Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.
Almontashiri NAM et al.
Scientific Reports, 2020
32523032 (PubMed )
Supplement: 41598_2020_66401_MOESM3_ESM.xlsx › Table_S2
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.
O'Connell AE et al.
Plos Genetics, 2019
Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus.
Sankaran VG et al.
Blood, 2013
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