Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.V763V
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NPHS1

NM_004646.4:p.V763V

Associated Papers

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

Zhuo L et al.

Bmc Medical Genetics, 2019

Genetic Interactions Between TRPC6 and NPHS1 Variants Affect Posttransplant Risk of Recurrent Focal Segmental Glomerulosclerosis.

Sun ZJ et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2015

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM3_ESM.xls › Sheet1

Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.

Wu LQ et al.

Genetics and Molecular Research : Gmr, 2011

[Updates on the molecular genetics of congenital nephrotic syndrome].

Zhang HW et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011

NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome.

Mao J et al.

Pediatric Research, 2007

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

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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."