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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FGD4

Variant:p.R435delins

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FGD4

NM_139241.3:p.R435delins

hg38:chr12:32611249 GG>AA

Associated Papers

A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient.

Nishadham V et al.

Journal of Neuromuscular Diseases, 2024

38108359 (PubMed )

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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."