Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.P770L
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NPHS1

NM_004646.4:p.P770L

Associated Papers

A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis.

Zhuo L et al.

Bmc Medical Genetics, 2019

Mutational spectrum and novel candidate genes in Chinese children with sporadic steroid-resistant nephrotic syndrome.

Li J et al.

Pediatric Research, 2019

Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.

Sen ES et al.

Journal of Medical Genetics, 2017

28780565 (PubMed )
Supplement: jmedgenet-2017-104811supp002.docx
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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."