Varaico: Literature-Extracted Genetic Variants

Gene:INF2
Variant:p.N202S
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INF2

NM_022489.4:p.N202S

Associated Papers

Altered Endoplasmic Reticulum Integrity and Organelle Interactions in Living Cells Expressing INF2 Variants.

Tran QTH et al.

International Journal of Molecular Sciences, 2024

Characterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy.

Ueda H et al.

Scientific Reports, 2023

A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles.

Bayraktar S et al.

Journal of the American Society of Nephrology : Jasn, 2020

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.

Caridi G et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2014

Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis.

Gbadegesin RA et al.

Kidney International, 2012

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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."