Varaico: Literature-Extracted Genetic Variants

Gene:TRPM3
Variant:p.N1126D
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TRPM3

NM_001366145.2:p.N1126D

Associated Papers

A Phenotypic Paradigm for Cerebral Palsy Genetics.

Arterbery AS et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

41646824 (PubMed )
Supplement: media-2.xlsx › Table_S3

Phenotype Spectrum of TRPM3-Associated Disorders.

Jolitz L et al.

Annals of Neurology, 2025

Neurodevelopmental disorders caused by variants in TRPM3.

Roelens R et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2024

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

Role of novel de novo gain-of-function TRPM3 mutations in a spectrum of neurodevelopmental disorders.

Kashio M et al.

Cell Calcium, 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."