Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.G601A
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NPHS1

NM_004646.4:p.G601A

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Potential susceptibility genes in patients with stage III and IV periodontitis: A whole-exome sequencing pilot study.

Xue F et al.

Biomolecules & Biomedicine, 2024

Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.

Liu Y et al.

Human Genome Variation, 2023

37217505 (PubMed )
Supplement: 41439_2023_238_MOESM1_ESM.xlsx › Sheet1

Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.

Schijvens AM et al.

Kidney International Reports, 2020

33305107 (PubMed )
Supplement: mmc1.pdf

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4a_-_Prenatal_screening

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

Zhuo L et al.

Bmc Medical Genetics, 2019

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.

Tong W et al.

Scientific Reports, 2018

29581464 (PubMed )
Supplement: 41598_2018_23503_MOESM1_ESM.xls › P3

Coenzyme Q10 supplementation therapy for 2 children with proteinuria renal disease and ADCK4 mutation: Case reports and literature review.

Feng C et al.

Medicine, 2017

Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children.

Wang Y et al.

Gene, 2017

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