Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.S1105S
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NPHS1

NM_004646.4:p.S1105S

Associated Papers

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

Zhuo L et al.

Bmc Medical Genetics, 2019

Molecular Genetic Analysis of Steroid Resistant Nephrotic Syndrome, Detection of a Novel Mutation.

Shojaei A et al.

Iranian Journal of Kidney Diseases, 2019

The Role of p.Ser1105Ser (in NPHS1 Gene) and p.Arg548Leu (in PLCE1 Gene) with Disease Status of Vietnamese Patients with Congenital Nephrotic Syndrome: Benign or Pathogenic?

Thi Kim Lien N et al.

Medicina (kaunas, Lithuania), 2019

Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome.

Fu R et al.

Genetics and Molecular Research : Gmr, 2015

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

Detection of the Finnish-type congenital nephrotic syndrome by restriction fragment length polymorphism and dual-color oligonucleotide ligation assays.

Romppanen EL et al.

Clinical Chemistry, 2000

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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."