Varaico: Literature-Extracted Genetic Variants

Gene:FGD4
Variant:p.N172insFs
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FGD4

NM_001370298.3:p.N172insFs

Associated Papers

Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.

Yalcouyé A et al.

Journal of the Peripheral Nervous System : Jpns, 2022

A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.

Mahungu AC et al.

Orphanet Journal of Rare Diseases, 2022

35331287 (PubMed )
Supplement: 13023_2022_2280_MOESM1_ESM.xlsx › Sheet1

A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.

Boubaker C et al.

Annals of Human Genetics, 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."