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Paper Details

De novo <i>TRPM3</i> missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.
Cold Spring Harb Mol Case Stud
1
2024
Asn1126Asp, Mendelian disease-associated genes, TRPM3, TRPM3 missense, TRPM3 missense variant, TRPM3 protein, cerebral palsy, developmental delay, neurodevelopmental delay, p.(, patient

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Release 1.2