Varaico: Literature-Extracted Genetic Variants

Gene:INF2
Variant:p.V181G
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INF2

NM_022489.4:p.V181G

Associated Papers

INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.

Park JH et al.

Journal of the Peripheral Nervous System : Jpns, 2023

The formin INF2 in disease: progress from 10 years of research.

Labat-de-Hoz L et al.

Cellular and Molecular Life Sciences : Cmls, 2020

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

Bayraktar S et al.

Journal of the American Society of Nephrology : Jasn, 2020

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.

Mann N et al.

Journal of the American Society of Nephrology : Jasn, 2019

Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.

Tan W et al.

Pediatric Nephrology (berlin, Germany), 2018

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

Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.

Barua M et al.

Kidney International, 2013

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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."