Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G1098V
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COL4A5

NM_033380.3:p.G1098V

Associated Papers

A Prediction Model of Disease Progression in X-Linked Alport syndrome Based on Clinical Characteristics and Genetic Variants.

Zeng M et al.

Kidney International Reports, 2025

40630291 (PubMed )
Supplement: mmc1.pdf

Preimplantation genetic testing for monogenic disorders (PGT-M) for monogenic nephropathy: a single-center retrospective cohort analysis.

Liu X et al.

Clinical Kidney Journal, 2025

39802589 (PubMed )
Supplement: sfae356_supplemental_file.pdf

[Identification of a novel variant of COL4A5 gene in a pedigree affected with Alport syndrome].

Liu X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020

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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."