Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.R456Q
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NPHS1

NM_004646.4:p.R456Q

Associated Papers

Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application.

Jung J et al.

Clinical Genetics, 2023

Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus.

Ameratunga R et al.

Clinical & Translational Immunology, 2017

29114388 (PubMed )
Supplement: cti201741x3.pdf
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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."