Varaico: Literature-Extracted Genetic Variants

Gene:TRPC5
Variant:p.R175C
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TRPC5

NM_012471.3:p.R175C

Associated Papers

Cytoplasmic inter-subunit interface modulates TRPC5 activity: Molecular mechanism behind intellectual disability-related R175C mutation.

Mitro M et al.

Neurobiology of Disease, 2025

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.

Leitão E et al.

Nature Communications, 2022

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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."