Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G594D
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COL4A5

NM_033380.3:p.G594D

Associated Papers

Importance of family history and health checkup for school-aged children for type IV collagen-associated nephropathy in hereditary kidney disease.

Kawamoto R et al.

Journal of Nephrology, 2025

40753325 (PubMed )
Supplement: 40620_2025_2355_MOESM1_ESM.docx

X-linked Alport Syndrome with Type IV Collagen α5 Chain Staining Revealing Normal Expression in the Glomerular Basement Membrane and Negative on Bowman's Capsule and Distal Tubular Basement Membrane: A Case Report.

Okamoto T et al.

The Tohoku Journal of Experimental Medicine, 2023

New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort study.

Chen Y et al.

Molecular Genetics & Genomic Medicine, 2023

37248651 (PubMed )
Supplement: MGG3-11-e2163-s001.xls › Table_S1

Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial.

Boeckhaus J et al.

Clinical Genetics, 2021

Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.

Yao T et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2019

A Split-Luciferase-Based Trimer Formation Assay as a High-throughput Screening Platform for Therapeutics in Alport Syndrome.

Omachi K et al.

Cell Chemical Biology, 2018

Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.

Shulman C et al.

Kidney Medicine, 0

33851121 (PubMed )
Supplement: mmc1.pdf
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