Varaico: Literature-Extracted Genetic Variants

Gene:TRPM3
Variant:p.L769V
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TRPM3

NM_020952.6:p.L769V

Associated Papers

De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.

Sundaramurthi JC et al.

Cold Spring Harbor Molecular Case Studies, 2023

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.

Burglen L et al.

Elife, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."