Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.T294I
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NPHS1

NM_004646.4:p.T294I

Associated Papers

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

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

Zhuo L et al.

Bmc Medical Genetics, 2019

Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.

Gast C et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2016

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.

McCarthy HJ et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2013

A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.

Abid A et al.

Gene, 2012

Clinical features and outcome of childhood minimal change nephrotic syndrome: is genetics involved?

Lahdenkari AT et al.

Pediatric Nephrology (berlin, Germany), 2005

Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS).

Lahdenkari AT et al.

Kidney International, 2004

Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.

Verduin M et al.

Neuro-oncology Advances, 0

38130902 (PubMed )
Supplement: vdad152_suppl_supplementary_materials_5.xlsx › SNVs
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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."