Varaico: Literature-Extracted Genetic Variants

Gene:INF2
Variant:p.G73D
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INF2

NM_022489.4:p.G73D

Associated Papers

INF2-Related Charcot-Marie-Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights.

Yano C et al.

Annals of Clinical and Translational Neurology, 2026

Nerve Enlargement in Patients with INF2 Variants Causing Peripheral Neuropathy and Focal Segmental Glomerulosclerosis.

Huong QTT et al.

Biomedicines, 2025

Co-occurrence of Charcot-Marie-Tooth disease type 1 and glomerulosclerosis in a patient with a de novo INF2 variant.

Ding Y et al.

Bmc Nephrology, 2024

Regulation of formin INF2 and its alteration in INF2-linked inherited disorders.

Labat-de-Hoz L et al.

Cellular and Molecular Life Sciences : Cmls, 2024

39586895 (PubMed )
Supplement: 18_2024_5499_MOESM3_ESM.xlsx › Table-S1

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

High diagnostic yield with algorithmic molecular approach on hereditary neuropathies.

Ceylan GG et al.

Revista Da Associacao Medica Brasileira (1992), 2023

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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."