Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.Y644Splc
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NPHS1

NM_004646.4:p.Y644Splc

Associated Papers

Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population.

Watanabe A et al.

Kidney International Reports, 2024

Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics.

Ars E et al.

Clinical Kidney Journal, 2017

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

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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."