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
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40585076 (PubMed )
Supplement: media-3.xlsx › Table_S6
Novel Pathogenic Mutation of P209L in TRPC6 Gene Causes Adult Focal Segmental Glomerulosclerosis.
Yu T et al.
Biochemical Genetics, 2024
Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.
Neves PD et al.
Kidney International, 2024
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
NPHS2 variation in focal and segmental glomerulosclerosis.
Tonna SJ et al.
Bmc Nephrology, 2008
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