Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.E633K
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COL4A5

NM_033380.3:p.E633K

Associated Papers

Impact of Age-3 Urine Screening on Diagnosis and Treatment Timing in Alport Syndrome.

Kitakado H et al.

Kidney International Reports, 2025

41426028 (PubMed )
Supplement: mmc1.pdf

Genetic, Clinical, and Pathologic Backgrounds of Children With X-Linked Alport Syndrome in China: A Monocenter Study.

Juan-Juan D et al.

Global Pediatric Health, 2024

Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing.

Aoto Y et al.

Kidney International Reports, 2022

Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.

Inoue Y et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 1999

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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."