Varaico: Literature-Extracted Genetic Variants

Gene:FN1
Variant:p.W1925R
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FN1

NM_212482.4:p.W1925R

Associated Papers

Clinicopathological features of familial fibronectin glomerulopathy caused by a splice site variant in the Fibronectin 1 gene: a case report.

Nagayama Y et al.

Cen Case Reports, 2025

Aberrant serum-derived FN1 variants bind to integrin β1 on glomerular endothelial cells contributing to thin basement membrane nephropathy.

Zhou X et al.

International Journal of Biological Macromolecules, 2024

Fibronectin glomerulopathy in an elderly patient with FN1 gene mutation: a case report and literature review.

Choi JY et al.

Bmc Nephrology, 2024

Clinicopathologic Features and Outcomes in Fibronectin Glomerulopathy: A Case Series of 19 Patients.

Zhang T et al.

Frontiers in Medicine, 2020

A novel single amino acid deletion impairs fibronectin function and causes familial glomerulopathy with fibronectin deposits: case report of a family.

Dos Reis Monteiro MLG et al.

Bmc Nephrology, 2019

A novel variant in FN1 in a family with fibronectin glomerulopathy.

Aslam N et al.

Human Genome Variation, 2019

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

Lee CS et al.

American Journal of Human Genetics, 2017

Fibronectin Glomerulopathy: A Rare Autosomal Dominant Glomerular Disease.

Wu J et al.

Chinese Medical Journal, 2017

Fibronectin glomerulopathy complicated with persistent cloaca and congenital esophageal atresia: a case report and literature review.

Takii M et al.

Bmc Nephrology, 2017

Fibronectin Conformation and Assembly: Analysis of Fibronectin Deletion Mutants and Fibronectin Glomerulopathy (GFND) Mutants.

Ohashi T et al.

Biochemistry, 2017

Molecular genetics of familial hematuric diseases.

Deltas C et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013

A case of familial glomerulopathy with fibronectin deposits caused by the Y973C mutation in fibronectin.

Ertoy Baydar D et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2013

Fibronectin glomerulopathy: an unusual cause of adult-onset nephrotic syndrome.

Nadamuni M et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2012

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Mutations in FN1 cause glomerulopathy with fibronectin deposits.

Castelletti F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2008

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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."