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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRPM3

Variant:p.M1002R

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TRPM3

NM_001366141.2:p.M1002R

hg38:chr9:70598432 A>C

Associated Papers

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

Burglen L et al.

Elife, 2023

36648066 (PubMed )

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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."