Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.E309K
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NPHS1

NM_004646.4:p.E309K

Associated Papers

Whole-Exome Sequencing for Molecular Diagnosis of Paediatric Nephrotic Syndrome in Africa: A Call for Implementation.

Gcobo T et al.

Genes, 2025

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

Bierzynska A et al.

Kidney International, 2017

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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."