Varaico: Literature-Extracted Genetic Variants

Gene:INF2
Variant:p.R91G
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INF2

NM_022489.4:p.R91G

Associated Papers

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

High diagnostic yield with algorithmic molecular approach on hereditary neuropathies.

Ceylan GG et al.

Revista Da Associacao Medica Brasileira (1992), 2023

Role of formin INF2 in human diseases.

Zhao Y et al.

Molecular Biology Reports, 2022

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 cryptic splicing mutation in the INF2 gene causing Charcot-Marie-Tooth disease with minimal glomerular dysfunction.

Echaniz-Laguna A et al.

Journal of the Peripheral Nervous System : Jpns, 2019

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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."