Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.G795Splc
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COL4A4

NM_000092.5:p.G795Splc

Associated Papers

New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3.

García-Aznar JM et al.

Journal of Clinical Medicine, 2022

36013122 (PubMed )
Supplement: jcm-11-04883-s001.zip › jcm-1756647-supplementary.pdf

Identification of COL4A4 variants in Chinese patients with familial hematuria.

Gao Y et al.

Frontiers in Genetics, 2022

Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused by COL4A3 or COL4A4 mutations: a systematic review.

Matthaiou A et al.

Clinical Kidney Journal, 2020

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

Marcocci E et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009

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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."