Associated Papers
Elucidating loss-of-function mechanisms of monoallelic EPAS1 mutations underlying congenital hypoplastic anaemia in a paediatric anaemia cohort.
Zhang J et al.
British Journal of Haematology, 2025
Genetic disorders of neurotransmitter release machinery.
Uzay B et al.
Frontiers in Synaptic Neuroscience, 2023
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