Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.C1588fs
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COL4A4

NM_000092.5:p.C1588fs

Associated Papers

Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger.

Granhøj J et al.

Kidney International Reports, 2025

Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.

Zhang Y et al.

Pediatric Nephrology (berlin, Germany), 2021

Identification of a Novel COL4A4 Variant in Compound-Heterozygous State in a Patient With Alport Syndrome and Histological Findings Similar to Focal Segmental Glomerulosclerosis (FSGS).

Zhu F et al.

Frontiers in Genetics, 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."