Varaico: Literature-Extracted Genetic Variants

Gene:FUZ
Variant:p.S91F
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FUZ

NM_025129.5:p.S91F

Associated Papers

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.

Provenzano A et al.

Human Genetics, 2021

Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.

Bowles NE et al.

American Journal of Medical Genetics. Part A, 2015

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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."