Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.L344_V345Splc
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COL4A5

NM_033380.3:p.L344_V345Splc

Associated Papers

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

Functional assessment of a novel COL4A5 splicing site variant in a Chinese X-linked Alport syndrome family.

Chen X et al.

Annals of Translational Medicine, 2021

An accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease.

Wang Z et al.

Npj Genomic Medicine, 2021

34215756 (PubMed )
Supplement: 41525_2021_219_MOESM1_ESM.pdf
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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."