Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.G795Splc
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COL4A4

NM_000092.5:p.G795Splc

Associated Papers

Polygenic risk alters the penetrance of monogenic kidney disease.

Khan A et al.

Nature Communications, 2023

38097619 (PubMed )
Supplement: 41467_2023_43878_MOESM5_ESM.xlsx › M1

Polygenic risk affects the penetrance of monogenic kidney disease.

Khan A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37214819 (PubMed )
Supplement: media-2.xlsx › M1

[Comparison of phenotypic features between patients with X-linked and autosomal recessive Alport syndrome].

Wang F et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2014

Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome.

Zhang Y et al.

American Journal of Medical Genetics. Part A, 2012

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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."