Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.C1566fs
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COL4A4

NM_000092.5:p.C1566fs

Associated Papers

Next-Generation Sequencing-Based Genetic Diagnostic Strategies of Inherited Kidney Diseases.

Zhang J et al.

Kidney Diseases (basel, Switzerland), 2021

Understanding mutational effects in digenic diseases.

Gazzo A et al.

Nucleic Acids Research, 2017

28911095 (PubMed )
Supplement: gkx557_supp.zip › nar-00132-met-n-2017-File009.pdf

Evidence of digenic inheritance in Alport syndrome.

Mencarelli MA et al.

Journal of Medical Genetics, 2015

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."