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AJMG.A.36299
AJMG.A.36299
http://dx.doi.org/10.1002/AJMG.A.36299
Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.
P356
Q54392171-06366524-AC31-4BFD-8762-415BA8858B71
P356
AJMG.A.36299
http://dx.doi.org/10.1002/AJMG.A.36299