Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G600V
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COL4A5

NM_033380.3:p.G600V

Associated Papers

Genetic testing in focal segmental glomerulosclerosis: in whom and when?

Tato AM et al.

Clinical Kidney Journal, 2023

The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience.

Ćomić J et al.

Frontiers in Medicine, 2022

36117978 (PubMed )
Supplement: Data_Sheet_1.PDF

Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age.

Günthner R et al.

Frontiers in Medicine, 2022

36341250 (PubMed )
Supplement: Data_Sheet_1.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."