Varaico: Literature-Extracted Genetic Variants

Gene:FN1
Variant:p.W1925C
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FN1

NM_212482.4:p.W1925C

Associated Papers

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

Fibronectin glomerulopathy in a kidney allograft biopsy.

Klair N et al.

Bmc Nephrology, 2023

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

Identification of mutations in FN1 leading to glomerulopathy with fibronectin deposits.

Ohtsubo H et al.

Pediatric Nephrology (berlin, Germany), 2016

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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."