Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.E121K
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NPHS1

NM_004646.4:p.E121K

Associated Papers

The Clinical and Genetic Features in Chinese Children With Steroid-Resistant or Early-Onset Nephrotic Syndrome: A Multicenter Cohort Study.

Zhu X et al.

Frontiers in Medicine, 2022

35755072 (PubMed )
Supplement: Data_Sheet_1.PDF

Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.

Bullich G et al.

European Journal of Human Genetics : Ejhg, 2015

25407002 (PubMed )
Supplement: ejhg2014252x1.doc

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.

Machuca E et al.

Journal of the American Society of Nephrology : Jasn, 2010

Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.

Santín S et al.

Kidney International, 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."