Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G1116V
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COL4A5

NM_033380.3:p.G1116V

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

Genetic features and kidney morphological changes in women with X-linked Alport syndrome.

Di H et al.

Journal of Medical Genetics, 2023

Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.

Bowling KM et al.

Genome Medicine, 2022

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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."