Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G1024E
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COL4A5

NM_033380.3:p.G1024E

Associated Papers

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

Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X-linked Alport syndrome.

Zhao X et al.

Biomedical Reports, 2020

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

Morinière V et al.

Journal of the American Society of Nephrology : Jasn, 2014

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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."