Varaico: Literature-Extracted Genetic Variants

Gene:FAAH2
Variant:p.A458S
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FAAH2

NM_174912.4:p.A458S

Associated Papers

Investigating the role of a novel hemizygous FAAH2 variant in neurological and metabolic disorders.

Vinci M et al.

Gene, 2025

Novel genes bearing mutations in rare cases of early-onset ataxia with cerebellar hypoplasia.

Protasova MS et al.

European Journal of Human Genetics : Ejhg, 2022

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.

Sirrs S et al.

Orphanet Journal of Rare Diseases, 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."