Associated Papers
Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.
Al-Hedaithy A et al.
Scientific Reports, 2025
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
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29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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