Varaico: Literature-Extracted Genetic Variants

Gene:MPV17
Variant:p.R175Q
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MPV17

NM_002437.5:p.R175Q

Associated Papers

Generation of an induced pluripotent stem cell line (NCKDi006-A) from a 34-year-old patient with focal segmental glomerulosclerosis carrying a heterozygous mutation in the TRPC6 gene.

Wang Y et al.

Stem Cell Research, 2025

Transient receptor potential canonical type 6 (TRPC6) O-GlcNAcylation at Threonine-221 plays potent role in channel regulation.

Mishra S et al.

Iscience, 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."