Associated Papers
Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.
Xu KK et al.
Pediatric Pulmonology, 2022
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.
Huang H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
35121658 (PubMed )
Supplement: pnas.2105228119.sapp.pdf
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