Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.P312_G313Splc
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COL4A5

NM_033380.3:p.P312_G313Splc

Associated Papers

Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age.

Günthner R et al.

Frontiers in Medicine, 2022

36341250 (PubMed )
Supplement: Data_Sheet_1.PDF

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

Nagel M et al.

Human Mutation, 2005

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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."