Varaico: Literature-Extracted Genetic Variants

Gene:TRPC3
Variant:p.S635G
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TRPC3

NM_001130698.2:p.S635G

Associated Papers

Phenotypical, genotypical and pathological characterization of the moonwalker mouse, a model of ataxia.

Sekerková G et al.

Neurobiology of Disease, 2024

Post-Translational Modification and Natural Mutation of TRPC Channels.

Liu X et al.

Cells, 2020

A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice.

Becker EB et al.

Proceedings of the National Academy of Sciences of the United States of America, 2009

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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."