Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.Q215*
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NPHS2

NM_014625.4:p.Q215*

Associated Papers

Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence.

Kachmar J et al.

Kidney International Reports, 2024

The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment.

Mikó Á et al.

Human Mutation, 2018

Targeted Next-Generation Sequencing in Brazilian Children With Nephrotic Syndrome Submitted to Renal Transplant.

Feltran LS et al.

Transplantation, 2017

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

Steroid Resistant Nephrotic Syndrome-Genetic Consideration.

Tasic V et al.

Prilozi (makedonska Akademija Na Naukite I Umetnostite. Oddelenie Za Medicinski Nauki), 2015

Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family.

Jain V et al.

Clinical Kidney Journal, 2014

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

Bouchireb K et al.

Human Mutation, 2014

Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant.

Machuca E et al.

Kidney International, 2009

NPHS2 variation in focal and segmental glomerulosclerosis.

Tonna SJ et al.

Bmc Nephrology, 2008

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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."