Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.A54fs
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FA2H

NM_024306.5:p.A54fs

Associated Papers

A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients.

Mo L et al.

Pediatric Neurology, 2024

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Rattay TW et al.

Brain : a Journal of Neurology, 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."