Varaico: Literature-Extracted Genetic Variants

Gene:TRPC6
Variant:p.H145R
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TRPC6

NM_004621.6:p.H145R

Associated Papers

Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies.

McAnallen SM et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025

40388293 (PubMed )
Supplement: gfaf086_Supplemental_Files.zip › TRPC6_NDT_R2_01903-2024_Supplementary_Tables.xlsx › Table_S9

Nephrogenomics, precision medicine and the role of genetic testing in adult kidney disease management.

Bensouna I et al.

Nature Reviews. Nephrology, 2025

In silico analysis of TRPM4 variants of unknown clinical significance.

Tarnovskaya SI et al.

Plos One, 2023

38100498 (PubMed )
Supplement: pone.0295974.s001.xlsx › Table_S1_Broad_Dataset_ST

Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.

Nagano C et al.

Scientific Reports, 2020

Two Children With Novel TRPC6 Spontaneous Missense Mutations and Atypical Phenotype: A Case Report and Literature Review.

Wang M et al.

Frontiers in Pediatrics, 2020

Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.

Lata S et al.

Annals of Internal Medicine, 2018

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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."