Bone morphogenetic protein receptor type 2 (BMPR2) encodes an evolutionarily conserved serine/threonine kinase that phosphorylates type-1 BMP receptors to mediate intercellular communication upon ligand binding. Loss-of-function variants in BMPR2 are known to cause pulmonary arterial hypertension and other cardiovascul...
Jung-Wan Mok, Carrie L. Welch, Haley A. Dostalik et al.· American Journal of Human Ge...· 0 citations
By linking early genetic probability with brain-behavioral trajectories, PROGRESS advances understanding of autism-related differences before clinical diagnosis and provides an empirically grounded foundation for ethical genomic newborn screening and optimized early developmental monitoring and intervention.
Nicolò Pini, L. Shuffrey, Kally C. O'Reilly Sparks et al.· Pediatric Research· 0 citations
It is shown that model size, training dataset and stochastic elements can bias the predicted p(sequence) away from real fitness, which clarifies the scaling behavior of protein models on fitness prediction and provides practical guidelines for their application and future development.
Chao Hou, Di Liu, Aziz Zafar et al.· Nature Computational Science· 2 citations
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