Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G1152Splc
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COL4A5

NM_033380.3:p.G1152Splc

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

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Zhang P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var

Variants in genes coding for collagen type IV α-chains are frequent causes of persistent, isolated hematuria during childhood.

Alge JL et al.

Pediatric Nephrology (berlin, Germany), 2023

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