De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy
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We identified a de novo heterozygous transient receptor potential cation channel subfamily M (melastatin) member 3 (TRPM3) missense variant, p.(Asn1126Asp), in a patient with developmental delay and manifestations of cerebral palsy (CP) using phenotype-driven ... ...
