Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.A1078D
Back to variants list

NPHS1

NM_004646.4:p.A1078D

Associated Papers

High Incidence of COL4A Genetic Variants Among a Cohort of Children With Steroid-Resistant Nephrotic Syndrome From Eastern India.

Sinha R et al.

Kidney International Reports, 2022

35497790 (PubMed )
Supplement: mmc1.pdf

Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome.

Yang F et al.

Journal of Genetics, 2016

Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.

Cil O et al.

Pediatric Nephrology (berlin, Germany), 2015

Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.

Caridi G et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."