ArticleMolecular brain2026
Impaired phrenic nerve axon development and diaphragm neuromuscular junction formation in embryonic Cyfip2-null mice.
Article in Molecular brain, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Pathogenic variants in CYFIP2 cause developmental and epileptic encephalopathy 65 (DEE65) and have been predominantly investigated in the context of central nervous system dysfunction. However, emerging clinical evidence suggests that peripheral nervous system (PNS) involvement may also contribute to disease manifestations. To explore this possibility, we examined the role of CYFIP2 in the development of the phrenic neuromuscular system, which is essential for neonatal respiration. Because conventional Cyfip2-null (Cyfip2
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