Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.P1330P
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COL4A4

NM_000092.5:p.P1330P

Associated Papers

Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing.

Deng H et al.

Frontiers in Medicine, 2022

Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.

Zhang Y et al.

Pediatric Nephrology (berlin, Germany), 2021

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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."